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Basic Information

SAV Position Domain position
RS Q(SASA) Source Structural position

Pathogenicity / Stability Predictions

AlphaMissense (IC) AlphaMissense (N2AB)
CADD Condel DUET FATHMM M-CAP
mCSM MetaLR MetaSVM MPC MutationAssessor
MutationTaster MutPred MVP PolyPhen-2
PrimateAI PROVEAN REVEL Rhapsody SIFT

Disease Associations

Disease Zygosity Comments

Population Frequencies

Whole Population MAF African (AFR) Latin American (AMR)
Amish (AMS) Ashkenazi Jewish (ASJ) East Asian (EAS)
European/1KGP (EUR) Finnish (FIN) Middle Eastern (MDE)
Non-Finnish European (NFE) South Asian (SAS) Other (OTH)

Other Annotations

Site Annotation Predicted PPI site mCSM-PPI

10 20 30 40 50 60 70 80
P K I F E R I Q S Q T V G Q G S D A H F R V R V V G K P D P E C E W Y K N G V K I E R S D R I Y W Y W P E D N V C E L V I R D V T A E D S A S I M V K A I N I A G E T S S H A F L L V Q A K Q L I T F T Q E L Q D V V A K E K D T M A T F E C E T S E P F V K V K W Y K D G M E V H E G D K Y R M H S D R K V H F L S I L T I D T S D A E D Y S C V L V E D E N V K T T A K L I V E
- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - I T F T Q E L Q D V V A K E K D T M A T F E C E T S E P F V K V K W Y K D G M E V H E G D K Y R M H S D R K V H F L S I L T I D T S D A E D Y S C V L V E D E N V K T T A K L I V -

Map SAVs to Structure

The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
2174 1 I/M 1 rs1414401674 0.2777 None gnomAD-2.1.1 7.98E-06
2174 1 I/M 1 rs1414401674 0.2777 None gnomAD-4.0.0 1.36834E-06
2174 1 I/V 1 rs1171508892 0.2777 None gnomAD-2.1.1 3.99E-06
2174 1 I/V 1 rs1171508892 0.2777 None gnomAD-4.0.0 3.18193E-06
2176 3 F/L 3 rs1423674252 0.2126 None gnomAD-2.1.1 7.09E-06
2176 3 F/L 3 rs1423674252 0.2126 None gnomAD-3.1.2 1.31E-05
2176 3 F/L 3 rs1423674252 0.2126 None gnomAD-4.0.0 5.12319E-06
2177 4 T/I 4 None 0.4428 None gnomAD-4.0.0 2.05244E-06
2178 5 Q/R 5 None 0.4171 None gnomAD-4.0.0 1.20032E-06
2179 6 E/V 7 None 0.7714 None gnomAD-4.0.0 1.59088E-06
2182 9 D/V 11 None 0.5620 None gnomAD-4.0.0 1.59085E-06
2183 10 V/I 13 rs940814498 0.1974 None gnomAD-2.1.1 1.06E-05
2183 10 V/I 13 rs940814498 0.1974 None gnomAD-3.1.2 3.94E-05
2183 10 V/I 13 rs940814498 0.1974 None gnomAD-4.0.0 8.67516E-06
2184 11 V/A 14 None 0.5574 None gnomAD-4.0.0 1.59088E-06
2185 12 A/P 16 rs367653049 0.1630 None gnomAD-3.1.2 6.57E-06
2185 12 A/P 16 rs367653049 0.1630 None gnomAD-4.0.0 6.57462E-06
2189 16 D/Y 25 rs1252868552 0.3448 None gnomAD-4.0.0 1.20033E-06
2190 17 T/A 26 rs1204873968 0.8227 None gnomAD-2.1.1 3.99E-06
2190 17 T/A 26 rs1204873968 0.8227 None gnomAD-3.1.2 6.57E-06
2190 17 T/A 26 rs1204873968 0.8227 None gnomAD-4.0.0 2.47841E-06
2190 17 T/I 26 rs767577772 0.8227 None gnomAD-2.1.1 1.2E-05
2190 17 T/I 26 rs767577772 0.8227 None gnomAD-3.1.2 6.57E-06
2190 17 T/I 26 rs767577772 0.8227 None gnomAD-4.0.0 3.84227E-06
2191 18 M/V 27 rs760003993 0.4503 None gnomAD-2.1.1 1.2E-05
2191 18 M/V 27 rs760003993 0.4503 None gnomAD-3.1.2 1.31E-05
2191 18 M/V 27 rs760003993 0.4503 None gnomAD-4.0.0 4.33728E-06
2192 19 A/E 28 None 0.1791 None gnomAD-4.0.0 1.20033E-06
2192 19 A/T 28 rs774574739 0.1791 None gnomAD-2.1.1 2.79E-05
2192 19 A/T 28 rs774574739 0.1791 None gnomAD-3.1.2 9.21E-05
2192 19 A/T 28 rs774574739 0.1791 None gnomAD-4.0.0 2.43371E-05
2193 20 T/A 29 rs147148170 0.3005 None gnomAD-2.1.1 3.99E-06
2193 20 T/A 29 rs147148170 0.3005 None gnomAD-3.1.2 6.57E-06
2193 20 T/A 29 rs147148170 0.3005 None gnomAD-4.0.0 6.57082E-06
2193 20 T/I 29 None 0.3005 None gnomAD-4.0.0 1.36826E-06
2193 20 T/N 29 rs1574640739 0.3005 None gnomAD-4.0.0 2.05239E-06
2195 22 E/G 31 rs202032875 0.3545 None gnomAD-2.1.1 1.94897E-04
2195 22 E/G 31 rs202032875 0.3545 None gnomAD-3.1.2 2.10286E-04
2195 22 E/G 31 rs202032875 0.3545 None gnomAD-4.0.0 2.67052E-04
2196 23 C/R 33 None 0.0839 None gnomAD-4.0.0 1.20032E-06
2196 23 C/S 33 None 0.0839 None gnomAD-4.0.0 1.20032E-06
2196 23 C/Y 33 rs878854326 0.0839 None gnomAD-2.1.1 7.09E-06
2196 23 C/Y 33 rs878854326 0.0839 None gnomAD-3.1.2 1.31E-05
2196 23 C/Y 33 rs878854326 0.0839 None gnomAD-4.0.0 6.40379E-06
2197 24 E/K 34 rs139329751 0.1929 None gnomAD-2.1.1 3.99E-06
2197 24 E/K 34 rs139329751 0.1929 None gnomAD-4.0.0 3.18157E-06
2198 25 T/A 35 None 0.0859 None gnomAD-4.0.0 1.36823E-06
2198 25 T/I 35 rs886038879 0.0859 None gnomAD-2.1.1 3.19E-05
2198 25 T/I 35 rs886038879 0.0859 None gnomAD-3.1.2 6.57E-06
2198 25 T/I 35 rs886038879 0.0859 None gnomAD-4.0.0 2.56157E-06
2198 25 T/S 35 None 0.0859 None gnomAD-4.0.0 6.84115E-07
2200 27 E/K 41 rs1378587847 0.3858 None gnomAD-2.1.1 3.99E-06
2200 27 E/K 41 rs1378587847 0.3858 None gnomAD-4.0.0 6.84119E-06
2201 28 P/S 42 rs763426070 0.3192 None gnomAD-2.1.1 7.97E-06
2202 29 F/L 43 None 0.6981 None gnomAD-4.0.0 1.20032E-06
2202 29 F/S 43 rs773658956 0.6981 None gnomAD-2.1.1 3.99E-06
2202 29 F/S 43 rs773658956 0.6981 None gnomAD-4.0.0 7.20193E-06
2203 30 V/A 44 rs746433556 0.1870 None gnomAD-2.1.1 7.97E-06
2203 30 V/A 44 rs746433556 0.1870 None gnomAD-3.1.2 5.26E-05
2203 30 V/A 44 rs746433556 0.1870 None gnomAD-4.0.0 9.91375E-06
2203 30 V/F 44 rs768181882 0.1870 None gnomAD-2.1.1 3.99E-06
2203 30 V/F 44 rs768181882 0.1870 None gnomAD-4.0.0 2.73647E-06
2203 30 V/I 44 rs768181882 0.1870 None gnomAD-2.1.1 3.99E-06
2203 30 V/I 44 rs768181882 0.1870 None gnomAD-3.1.2 6.57E-06
2203 30 V/I 44 rs768181882 0.1870 None gnomAD-4.0.0 6.57099E-06
2204 31 K/E 45 rs1466089767 0.7856 None gnomAD-4.0.0 2.05233E-06
2204 31 K/N 45 rs1060500448 0.7856 None gnomAD-2.1.1 3.98E-06
2204 31 K/N 45 rs1060500448 0.7856 None gnomAD-3.1.2 6.57E-06
2204 31 K/N 45 rs1060500448 0.7856 None gnomAD-4.0.0 7.68421E-06
2205 32 V/M 46 rs2154345518 0.1803 None gnomAD-3.1.2 6.57E-06
2205 32 V/M 46 rs2154345518 0.1803 None gnomAD-4.0.0 6.56556E-06
2206 33 K/R 47 None 0.2063 None gnomAD-4.0.0 1.59074E-06
2208 35 Y/C 49 rs1186847832 0.1678 None gnomAD-3.1.2 6.57E-06
2208 35 Y/C 49 rs1186847832 0.1678 None gnomAD-4.0.0 5.07445E-06
2209 36 K/Q 50 rs1260981476 0.1215 None gnomAD-4.0.0 1.59075E-06
2210 37 D/N 51 rs2154345509 0.7878 None gnomAD-4.0.0 1.20032E-06
2211 38 G/S 52 rs779819023 0.3964 None gnomAD-2.1.1 7.97E-06
2211 38 G/S 52 rs779819023 0.3964 None gnomAD-4.0.0 3.18155E-06
2211 38 G/V 52 None 0.3964 None gnomAD-4.0.0 1.59077E-06
2212 39 M/T 55 rs2092055359 0.7276 None gnomAD-3.1.2 6.57E-06
2212 39 M/T 55 rs2092055359 0.7276 None gnomAD-4.0.0 6.57039E-06
2212 39 M/V 55 rs771623139 0.7276 None gnomAD-2.1.1 1.19E-05
2212 39 M/V 55 rs771623139 0.7276 None gnomAD-4.0.0 7.95391E-06
2213 40 E/D 56 rs745719077 0.2589 None gnomAD-2.1.1 1.42E-05
2213 40 E/D 56 rs745719077 0.2589 None gnomAD-3.1.2 1.97E-05
2213 40 E/D 56 rs745719077 0.2589 None gnomAD-4.0.0 1.85881E-06
2214 41 V/I 58 rs2092054706 0.1186 None gnomAD-4.0.0 1.59077E-06
2215 42 H/R 59 rs778552915 0.6496 None gnomAD-2.1.1 3.98E-06
2215 42 H/R 59 rs778552915 0.6496 None gnomAD-4.0.0 1.59074E-06
2216 43 E/D 70 None 0.5754 None gnomAD-4.0.0 1.59077E-06
2217 44 G/A 73 rs146236689 0.3208 None gnomAD-2.1.1 3.98E-06
2217 44 G/A 73 rs146236689 0.3208 None gnomAD-4.0.0 2.05236E-06
2217 44 G/R 73 None 0.3208 None gnomAD-4.0.0 2.05236E-06
2218 45 D/G 111 None 1.1468 None gnomAD-4.0.0 2.40064E-06
2219 46 K/Q 115 rs1292302676 0.1480 None gnomAD-2.1.1 3.19E-05
2219 46 K/Q 115 rs1292302676 0.1480 None gnomAD-3.1.2 6.57E-06
2219 46 K/Q 115 rs1292302676 0.1480 None gnomAD-4.0.0 3.84199E-06
2219 46 K/R 115 rs1482793298 0.1480 None gnomAD-2.1.1 3.98E-06
2219 46 K/R 115 rs1482793298 0.1480 None gnomAD-4.0.0 1.59078E-06
2220 47 Y/C 121 None 0.1747 None gnomAD-4.0.0 1.20032E-06
2220 47 Y/H 121 rs1235706679 0.1747 None gnomAD-2.1.1 3.98E-06
2220 47 Y/H 121 rs1235706679 0.1747 None gnomAD-4.0.0 4.10473E-06
2221 48 R/K 122 None 0.5460 None gnomAD-4.0.0 1.5908E-06
2222 49 M/K 123 None 0.2333 None gnomAD-4.0.0 6.84119E-07
2222 49 M/T 123 rs757071471 0.2333 None gnomAD-2.1.1 1.59E-05
2222 49 M/T 123 rs757071471 0.2333 None gnomAD-4.0.0 2.73648E-06
2222 49 M/V 123 rs1212976670 0.2333 None gnomAD-2.1.1 3.98E-06
2222 49 M/V 123 rs1212976670 0.2333 None gnomAD-4.0.0 1.59079E-06
2223 50 H/L 125 rs372979075 0.4049 None gnomAD-2.1.1 6.72E-05
2223 50 H/L 125 rs372979075 0.4049 None gnomAD-3.1.2 5.26E-05
2223 50 H/L 125 rs372979075 0.4049 None 1000 genomes 3.99361E-04
2223 50 H/L 125 rs372979075 0.4049 None gnomAD-4.0.0 2.35436E-05
2223 50 H/Q 125 rs1237315602 0.4049 None gnomAD-2.1.1 3.98E-06
2223 50 H/Q 125 rs1237315602 0.4049 None gnomAD-4.0.0 1.59082E-06
2223 50 H/R 125 None 0.4049 None gnomAD-4.0.0 6.84121E-07
2224 51 S/C 127 None 0.3711 None gnomAD-4.0.0 1.20032E-06
2225 52 D/N 130 None 0.6858 None gnomAD-4.0.0 1.20032E-06
2226 53 R/K 131 rs370438618 0.6271 None gnomAD-2.1.1 1.19E-05
2226 53 R/K 131 rs370438618 0.6271 None gnomAD-3.1.2 6.57E-06
2226 53 R/K 131 rs370438618 0.6271 None gnomAD-4.0.0 7.43544E-06
2228 55 V/A 135 rs752706070 0.1971 None gnomAD-2.1.1 7.96E-06
2228 55 V/A 135 rs752706070 0.1971 None gnomAD-3.1.2 1.31E-05
2228 55 V/A 135 rs752706070 0.1971 None gnomAD-4.0.0 4.95711E-06
2228 55 V/F 135 None 0.1971 None gnomAD-4.0.0 1.20032E-06
2228 55 V/G 135 None 0.1971 None gnomAD-4.0.0 6.84139E-07
2228 55 V/I 135 None 0.1971 None gnomAD-4.0.0 1.20032E-06
2229 56 H/Y 136 rs56851316 0.1201 None gnomAD-2.1.1 3.98E-06
2229 56 H/Y 136 rs56851316 0.1201 None gnomAD-3.1.2 6.57E-06
2229 56 H/Y 136 rs56851316 0.1201 None 1000 genomes 1.99681E-04
2229 56 H/Y 136 rs56851316 0.1201 None gnomAD-4.0.0 2.56119E-06
2230 57 F/C 137 None 0.1687 None gnomAD-4.0.0 6.84128E-07
2231 58 L/F 138 None 0.0646 None gnomAD-4.0.0 1.59083E-06
2232 59 S/F 139 rs377098846 0.1277 None gnomAD-2.1.1 3.98E-06
2233 60 I/T 140 rs1364650008 0.0597 None gnomAD-2.1.1 7.96E-06
2233 60 I/T 140 rs1364650008 0.0597 None gnomAD-4.0.0 4.7726E-06
2233 60 I/V 140 rs1574638831 0.0597 None gnomAD-4.0.0 2.05239E-06
2234 61 L/M 141 rs766750289 0.1601 None gnomAD-2.1.1 1.59E-05
2234 61 L/M 141 rs766750289 0.1601 None gnomAD-3.1.2 1.31E-05
2234 61 L/M 141 rs766750289 0.1601 None gnomAD-4.0.0 4.33727E-06
2234 61 L/P 141 rs534604830 0.1601 None gnomAD-2.1.1 7.96E-06
2234 61 L/P 141 rs534604830 0.1601 None gnomAD-3.1.2 6.57E-06
2234 61 L/P 141 rs534604830 0.1601 None 1000 genomes 1.99681E-04
2234 61 L/P 141 rs534604830 0.1601 None gnomAD-4.0.0 2.56096E-06
2234 61 L/Q 141 None 0.1601 None gnomAD-4.0.0 1.59084E-06
2235 62 T/I 143 rs1381061706 0.5562 None gnomAD-4.0.0 6.8413E-07
2235 62 T/S 143 None 0.5562 None gnomAD-4.0.0 6.8413E-07
2236 63 I/F 144 rs1328042181 0.0743 None gnomAD-2.1.1 3.18E-05
2236 63 I/F 144 rs1328042181 0.0743 None gnomAD-3.1.2 6.57E-06
2236 63 I/F 144 rs1328042181 0.0743 None gnomAD-4.0.0 6.57237E-06
2236 63 I/S 144 None 0.0743 None gnomAD-4.0.0 6.84131E-07
2236 63 I/T 144 rs1189735228 0.0743 None gnomAD-2.1.1 7.96E-06
2236 63 I/T 144 rs1189735228 0.0743 None gnomAD-4.0.0 2.73652E-06
2236 63 I/V 144 rs1328042181 0.0743 None gnomAD-4.0.0 3.18224E-06
2237 64 D/V 145 None 0.2607 None gnomAD-4.0.0 1.59083E-06
2238 65 T/A 146 rs747377115 0.6233 None gnomAD-2.1.1 3.98E-06
2238 65 T/A 146 rs747377115 0.6233 None gnomAD-4.0.0 6.84129E-07
2238 65 T/K 146 None 0.6233 None gnomAD-4.0.0 6.84146E-07
2238 65 T/M 146 rs201284459 0.6233 None gnomAD-2.1.1 1.62834E-04
2238 65 T/M 146 rs201284459 0.6233 None gnomAD-3.1.2 5.26E-05
2238 65 T/M 146 rs201284459 0.6233 None gnomAD-4.0.0 1.17733E-04
2238 65 T/P 146 rs747377115 0.6233 None gnomAD-4.0.0 1.23143E-05
2238 65 T/R 146 rs201284459 0.6233 None gnomAD-2.1.1 2.39E-05
2238 65 T/R 146 rs201284459 0.6233 None gnomAD-3.1.2 6.57E-06
2238 65 T/R 146 rs201284459 0.6233 None 1000 genomes 1.99681E-04
2238 65 T/R 146 rs201284459 0.6233 None gnomAD-4.0.0 1.11528E-05
2239 66 S/A 148 None 0.4132 None gnomAD-4.0.0 1.59081E-06
2239 66 S/F 148 rs1486541995 0.4132 None gnomAD-2.1.1 7.08E-06
2239 66 S/F 148 rs1486541995 0.4132 None gnomAD-3.1.2 6.57E-06
2239 66 S/F 148 rs1486541995 0.4132 None gnomAD-4.0.0 3.71776E-06
2240 67 D/E 149 rs149404931 0.0919 None gnomAD-2.1.1 1.42E-05
2240 67 D/E 149 rs149404931 0.0919 None gnomAD-3.1.2 3.94E-05
2240 67 D/E 149 rs149404931 0.0919 None gnomAD-4.0.0 3.94151E-05
2240 67 D/G 149 rs745532581 0.0919 None gnomAD-2.1.1 7.08E-06
2240 67 D/G 149 rs745532581 0.0919 None gnomAD-3.1.2 6.57E-06
2240 67 D/G 149 rs745532581 0.0919 None gnomAD-4.0.0 1.85904E-06
2240 67 D/N 149 rs769846959 0.0919 None gnomAD-2.1.1 2.83E-05
2240 67 D/N 149 rs769846959 0.0919 None gnomAD-3.1.2 1.31E-05
2240 67 D/N 149 rs769846959 0.0919 None gnomAD-4.0.0 2.43354E-05
2241 68 A/D 151 None 0.3226 None gnomAD-4.0.0 1.59088E-06
2243 70 D/Y 153 rs138787974 0.4491 None gnomAD-2.1.1 2.66611E-03
2243 70 D/Y 153 rs138787974 0.4491 None gnomAD-3.1.2 7.17225E-03
2243 70 D/Y 153 rs138787974 0.4491 None 1000 genomes 8.38658E-03
2243 70 D/Y 153 rs138787974 0.4491 None gnomAD-4.0.0 1.39629E-03
2244 71 Y/C 154 None 0.0836 None gnomAD-4.0.0 8.40229E-06
2245 72 S/G 155 None 0.1478 None gnomAD-4.0.0 2.40065E-06
2245 72 S/N 155 rs749033972 0.1478 None gnomAD-2.1.1 3.98E-06
2246 73 C/G 156 rs1484766954 0.0584 None gnomAD-2.1.1 3.98E-06
2246 73 C/G 156 rs1484766954 0.0584 None gnomAD-3.1.2 6.57E-06
2246 73 C/G 156 rs1484766954 0.0584 None gnomAD-4.0.0 3.84249E-06
2251 78 D/E 162 None 0.3949 None gnomAD-4.0.0 1.36839E-06
2251 78 D/H 162 rs942953757 0.3949 None gnomAD-2.1.1 3.99E-06
2251 78 D/H 162 rs942953757 0.3949 None gnomAD-4.0.0 2.73742E-06
2251 78 D/N 162 rs942953757 0.3949 None gnomAD-3.1.2 6.57E-06
2251 78 D/N 162 rs942953757 0.3949 None gnomAD-4.0.0 6.57263E-06
2251 78 D/V 162 None 0.3949 None gnomAD-4.0.0 1.20032E-06
2253 80 N/K 165 rs1296864074 0.7661 None gnomAD-2.1.1 7.97E-06
2253 80 N/K 165 rs1296864074 0.7661 None gnomAD-4.0.0 3.18242E-06
2254 81 V/D 166 None 0.2279 None gnomAD-4.0.0 1.59473E-06
2254 81 V/I 166 rs1401971730 0.2279 None gnomAD-2.1.1 3.99E-06
2254 81 V/I 166 rs1401971730 0.2279 None gnomAD-4.0.0 1.3685E-06
2255 82 K/N 168 None 0.5729 None gnomAD-4.0.0 3.43349E-06
2255 82 K/R 168 None 0.5729 None gnomAD-4.0.0 1.59126E-06
2256 83 T/A 169 rs1385805778 0.1328 None gnomAD-2.1.1 3.99E-06
2256 83 T/M 169 rs780758720 0.1328 None gnomAD-2.1.1 1.77E-05
2256 83 T/M 169 rs780758720 0.1328 None gnomAD-3.1.2 1.97E-05
2256 83 T/M 169 rs780758720 0.1328 None gnomAD-4.0.0 2.72676E-05
2257 84 T/A 171 None 0.3828 None gnomAD-4.0.0 1.59137E-06
2257 84 T/I 171 None 0.3828 None gnomAD-4.0.0 6.84239E-07
2257 84 T/S 171 rs755999681 0.3828 None gnomAD-2.1.1 7.09E-05
2257 84 T/S 171 rs755999681 0.3828 None gnomAD-3.1.2 3.94E-05
2257 84 T/S 171 rs755999681 0.3828 None gnomAD-4.0.0 1.73518E-05
2258 85 A/V 172 rs72647881 0.1027 None gnomAD-2.1.1 7.98E-06
2258 85 A/V 172 rs72647881 0.1027 None gnomAD-3.1.2 1.97E-05
2258 85 A/V 172 rs72647881 0.1027 None gnomAD-4.0.0 5.12501E-06
2259 86 K/E 173 None 0.4176 None gnomAD-4.0.0 2.05276E-06
2259 86 K/Q 173 None 0.4176 None gnomAD-4.0.0 6.84252E-07
2260 87 L/I 174 rs370058135 0.0985 None gnomAD-2.1.1 2E-05
2260 87 L/I 174 rs370058135 0.0985 None gnomAD-4.0.0 4.78987E-06
2261 88 I/L 175 rs755035176 0.4597 None gnomAD-2.1.1 3.99E-06
2261 88 I/L 175 rs755035176 0.4597 None gnomAD-3.1.2 6.57E-06
2261 88 I/L 175 rs755035176 0.4597 None gnomAD-4.0.0 1.23939E-06
2261 88 I/T 175 rs751757338 0.4597 None gnomAD-2.1.1 7.1E-06
2261 88 I/T 175 rs751757338 0.4597 None gnomAD-3.1.2 6.57E-06
2261 88 I/T 175 rs751757338 0.4597 None gnomAD-4.0.0 3.7184E-06
2261 88 I/V 175 None 0.4597 None gnomAD-4.0.0 6.84276E-07
2262 89 V/I 177 rs1430183288 0.2265 None gnomAD-2.1.1 3.99E-06
2262 89 V/I 177 rs1430183288 0.2265 None gnomAD-4.0.0 1.59173E-06