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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
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
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 0.2478 None gnomAD-2.1.1 7.98E-06
2174 1 I/M 1 rs1414401674 0.2478 None gnomAD-4.0.0 1.36834E-06
2174 1 I/V 1 rs1171508892 0.2478 None gnomAD-2.1.1 3.99E-06
2174 1 I/V 1 rs1171508892 0.2478 None gnomAD-4.0.0 3.18193E-06
2176 3 F/L 3 rs1423674252 0.2055 None gnomAD-2.1.1 7.09E-06
2176 3 F/L 3 rs1423674252 0.2055 None gnomAD-3.1.2 1.31E-05
2176 3 F/L 3 rs1423674252 0.2055 None gnomAD-4.0.0 5.12319E-06
2177 4 T/I 4 None 0.3909 None gnomAD-4.0.0 2.05244E-06
2178 5 Q/R 5 None 0.4955 None gnomAD-4.0.0 1.20032E-06
2179 6 E/V 7 None 0.6712 None gnomAD-4.0.0 1.59088E-06
2182 9 D/V 11 None 0.4035 None gnomAD-4.0.0 1.59085E-06
2183 10 V/I 13 rs940814498 0.1946 None gnomAD-2.1.1 1.06E-05
2183 10 V/I 13 rs940814498 0.1946 None gnomAD-3.1.2 3.94E-05
2183 10 V/I 13 rs940814498 0.1946 None gnomAD-4.0.0 8.67516E-06
2184 11 V/A 14 None 0.5244 None gnomAD-4.0.0 1.59088E-06
2185 12 A/P 16 rs367653049 0.1644 None gnomAD-3.1.2 6.57E-06
2185 12 A/P 16 rs367653049 0.1644 None gnomAD-4.0.0 6.57462E-06
2189 16 D/Y 25 rs1252868552 0.2262 None gnomAD-4.0.0 1.20033E-06
2190 17 T/A 26 rs1204873968 0.4335 None gnomAD-2.1.1 3.99E-06
2190 17 T/A 26 rs1204873968 0.4335 None gnomAD-3.1.2 6.57E-06
2190 17 T/A 26 rs1204873968 0.4335 None gnomAD-4.0.0 2.47841E-06
2190 17 T/I 26 rs767577772 0.4335 None gnomAD-2.1.1 1.2E-05
2190 17 T/I 26 rs767577772 0.4335 None gnomAD-3.1.2 6.57E-06
2190 17 T/I 26 rs767577772 0.4335 None gnomAD-4.0.0 3.84227E-06
2191 18 M/V 27 rs760003993 0.5159 None gnomAD-2.1.1 1.2E-05
2191 18 M/V 27 rs760003993 0.5159 None gnomAD-3.1.2 1.31E-05
2191 18 M/V 27 rs760003993 0.5159 None gnomAD-4.0.0 4.33728E-06
2192 19 A/E 28 None 0.0785 None gnomAD-4.0.0 1.20033E-06
2192 19 A/T 28 rs774574739 0.0785 None gnomAD-2.1.1 2.79E-05
2192 19 A/T 28 rs774574739 0.0785 None gnomAD-3.1.2 9.21E-05
2192 19 A/T 28 rs774574739 0.0785 None gnomAD-4.0.0 2.43371E-05
2193 20 T/A 29 rs147148170 0.3260 None gnomAD-2.1.1 3.99E-06
2193 20 T/A 29 rs147148170 0.3260 None gnomAD-3.1.2 6.57E-06
2193 20 T/A 29 rs147148170 0.3260 None gnomAD-4.0.0 6.57082E-06
2193 20 T/I 29 None 0.3260 None gnomAD-4.0.0 1.36826E-06
2193 20 T/N 29 rs1574640739 0.3260 None gnomAD-4.0.0 2.05239E-06
2195 22 E/G 31 rs202032875 0.2795 None gnomAD-2.1.1 1.94897E-04
2195 22 E/G 31 rs202032875 0.2795 None gnomAD-3.1.2 2.10286E-04
2195 22 E/G 31 rs202032875 0.2795 None gnomAD-4.0.0 2.67052E-04
2196 23 C/R 33 None 0.0832 None gnomAD-4.0.0 1.20032E-06
2196 23 C/S 33 None 0.0832 None gnomAD-4.0.0 1.20032E-06
2196 23 C/Y 33 rs878854326 0.0832 None gnomAD-2.1.1 7.09E-06
2196 23 C/Y 33 rs878854326 0.0832 None gnomAD-3.1.2 1.31E-05
2196 23 C/Y 33 rs878854326 0.0832 None gnomAD-4.0.0 6.40379E-06
2197 24 E/K 34 rs139329751 0.2270 None gnomAD-2.1.1 3.99E-06
2197 24 E/K 34 rs139329751 0.2270 None gnomAD-4.0.0 3.18157E-06
2198 25 T/A 35 None 0.0888 None gnomAD-4.0.0 1.36823E-06
2198 25 T/I 35 rs886038879 0.0888 None gnomAD-2.1.1 3.19E-05
2198 25 T/I 35 rs886038879 0.0888 None gnomAD-3.1.2 6.57E-06
2198 25 T/I 35 rs886038879 0.0888 None gnomAD-4.0.0 2.56157E-06
2198 25 T/S 35 None 0.0888 None gnomAD-4.0.0 6.84115E-07
2200 27 E/K 41 rs1378587847 0.3880 None gnomAD-2.1.1 3.99E-06
2200 27 E/K 41 rs1378587847 0.3880 None gnomAD-4.0.0 6.84119E-06
2201 28 P/S 42 rs763426070 0.3905 None gnomAD-2.1.1 7.97E-06
2202 29 F/L 43 None 1.0766 None gnomAD-4.0.0 1.20032E-06
2202 29 F/S 43 rs773658956 1.0766 None gnomAD-2.1.1 3.99E-06
2202 29 F/S 43 rs773658956 1.0766 None gnomAD-4.0.0 7.20193E-06
2203 30 V/A 44 rs746433556 0.1428 None gnomAD-2.1.1 7.97E-06
2203 30 V/A 44 rs746433556 0.1428 None gnomAD-3.1.2 5.26E-05
2203 30 V/A 44 rs746433556 0.1428 None gnomAD-4.0.0 9.91375E-06
2203 30 V/F 44 rs768181882 0.1428 None gnomAD-2.1.1 3.99E-06
2203 30 V/F 44 rs768181882 0.1428 None gnomAD-4.0.0 2.73647E-06
2203 30 V/I 44 rs768181882 0.1428 None gnomAD-2.1.1 3.99E-06
2203 30 V/I 44 rs768181882 0.1428 None gnomAD-3.1.2 6.57E-06
2203 30 V/I 44 rs768181882 0.1428 None gnomAD-4.0.0 6.57099E-06
2204 31 K/E 45 rs1466089767 0.7098 None gnomAD-4.0.0 2.05233E-06
2204 31 K/N 45 rs1060500448 0.7098 None gnomAD-2.1.1 3.98E-06
2204 31 K/N 45 rs1060500448 0.7098 None gnomAD-3.1.2 6.57E-06
2204 31 K/N 45 rs1060500448 0.7098 None gnomAD-4.0.0 7.68421E-06
2205 32 V/M 46 rs2154345518 0.3745 None gnomAD-3.1.2 6.57E-06
2205 32 V/M 46 rs2154345518 0.3745 None gnomAD-4.0.0 6.56556E-06
2206 33 K/R 47 None 0.3576 None gnomAD-4.0.0 1.59074E-06
2208 35 Y/C 49 rs1186847832 0.1561 None gnomAD-3.1.2 6.57E-06
2208 35 Y/C 49 rs1186847832 0.1561 None gnomAD-4.0.0 5.07445E-06
2209 36 K/Q 50 rs1260981476 0.1831 None gnomAD-4.0.0 1.59075E-06
2210 37 D/N 51 rs2154345509 0.6097 None gnomAD-4.0.0 1.20032E-06
2211 38 G/S 52 rs779819023 0.4130 None gnomAD-2.1.1 7.97E-06
2211 38 G/S 52 rs779819023 0.4130 None gnomAD-4.0.0 3.18155E-06
2211 38 G/V 52 None 0.4130 None gnomAD-4.0.0 1.59077E-06
2212 39 M/T 55 rs2092055359 0.5767 None gnomAD-3.1.2 6.57E-06
2212 39 M/T 55 rs2092055359 0.5767 None gnomAD-4.0.0 6.57039E-06
2212 39 M/V 55 rs771623139 0.5767 None gnomAD-2.1.1 1.19E-05
2212 39 M/V 55 rs771623139 0.5767 None gnomAD-4.0.0 7.95391E-06
2213 40 E/D 56 rs745719077 0.4778 None gnomAD-2.1.1 1.42E-05
2213 40 E/D 56 rs745719077 0.4778 None gnomAD-3.1.2 1.97E-05
2213 40 E/D 56 rs745719077 0.4778 None gnomAD-4.0.0 1.85881E-06
2214 41 V/I 58 rs2092054706 0.1733 None gnomAD-4.0.0 1.59077E-06
2215 42 H/R 59 rs778552915 0.8168 None gnomAD-2.1.1 3.98E-06
2215 42 H/R 59 rs778552915 0.8168 None gnomAD-4.0.0 1.59074E-06
2216 43 E/D 70 None 0.3946 None gnomAD-4.0.0 1.59077E-06
2217 44 G/A 73 rs146236689 0.2808 None gnomAD-2.1.1 3.98E-06
2217 44 G/A 73 rs146236689 0.2808 None gnomAD-4.0.0 2.05236E-06
2217 44 G/R 73 None 0.2808 None gnomAD-4.0.0 2.05236E-06
2218 45 D/G 111 None 0.8261 None gnomAD-4.0.0 2.40064E-06
2219 46 K/Q 115 rs1292302676 0.1472 None gnomAD-2.1.1 3.19E-05
2219 46 K/Q 115 rs1292302676 0.1472 None gnomAD-3.1.2 6.57E-06
2219 46 K/Q 115 rs1292302676 0.1472 None gnomAD-4.0.0 3.84199E-06
2219 46 K/R 115 rs1482793298 0.1472 None gnomAD-2.1.1 3.98E-06
2219 46 K/R 115 rs1482793298 0.1472 None gnomAD-4.0.0 1.59078E-06
2220 47 Y/C 121 None 0.2177 None gnomAD-4.0.0 1.20032E-06
2220 47 Y/H 121 rs1235706679 0.2177 None gnomAD-2.1.1 3.98E-06
2220 47 Y/H 121 rs1235706679 0.2177 None gnomAD-4.0.0 4.10473E-06
2221 48 R/K 122 None 0.6199 None gnomAD-4.0.0 1.5908E-06
2222 49 M/K 123 None 0.2018 None gnomAD-4.0.0 6.84119E-07
2222 49 M/T 123 rs757071471 0.2018 None gnomAD-2.1.1 1.59E-05
2222 49 M/T 123 rs757071471 0.2018 None gnomAD-4.0.0 2.73648E-06
2222 49 M/V 123 rs1212976670 0.2018 None gnomAD-2.1.1 3.98E-06
2222 49 M/V 123 rs1212976670 0.2018 None gnomAD-4.0.0 1.59079E-06
2223 50 H/L 125 rs372979075 0.3535 None gnomAD-2.1.1 6.72E-05
2223 50 H/L 125 rs372979075 0.3535 None gnomAD-3.1.2 5.26E-05
2223 50 H/L 125 rs372979075 0.3535 None 1000 genomes 3.99361E-04
2223 50 H/L 125 rs372979075 0.3535 None gnomAD-4.0.0 2.35436E-05
2223 50 H/Q 125 rs1237315602 0.3535 None gnomAD-2.1.1 3.98E-06
2223 50 H/Q 125 rs1237315602 0.3535 None gnomAD-4.0.0 1.59082E-06
2223 50 H/R 125 None 0.3535 None gnomAD-4.0.0 6.84121E-07
2224 51 S/C 127 None 0.3291 None gnomAD-4.0.0 1.20032E-06
2225 52 D/N 130 None 0.3402 None gnomAD-4.0.0 1.20032E-06
2226 53 R/K 131 rs370438618 0.6765 None gnomAD-2.1.1 1.19E-05
2226 53 R/K 131 rs370438618 0.6765 None gnomAD-3.1.2 6.57E-06
2226 53 R/K 131 rs370438618 0.6765 None gnomAD-4.0.0 7.43544E-06
2228 55 V/A 135 rs752706070 0.2347 None gnomAD-2.1.1 7.96E-06
2228 55 V/A 135 rs752706070 0.2347 None gnomAD-3.1.2 1.31E-05
2228 55 V/A 135 rs752706070 0.2347 None gnomAD-4.0.0 4.95711E-06
2228 55 V/F 135 None 0.2347 None gnomAD-4.0.0 1.20032E-06
2228 55 V/G 135 None 0.2347 None gnomAD-4.0.0 6.84139E-07
2228 55 V/I 135 None 0.2347 None gnomAD-4.0.0 1.20032E-06
2229 56 H/Y 136 rs56851316 0.1452 None gnomAD-2.1.1 3.98E-06
2229 56 H/Y 136 rs56851316 0.1452 None gnomAD-3.1.2 6.57E-06
2229 56 H/Y 136 rs56851316 0.1452 None 1000 genomes 1.99681E-04
2229 56 H/Y 136 rs56851316 0.1452 None gnomAD-4.0.0 2.56119E-06
2230 57 F/C 137 None 0.2401 None gnomAD-4.0.0 6.84128E-07
2231 58 L/F 138 None 0.0564 None gnomAD-4.0.0 1.59083E-06
2232 59 S/F 139 rs377098846 0.1977 None gnomAD-2.1.1 3.98E-06
2233 60 I/T 140 rs1364650008 0.0552 None gnomAD-2.1.1 7.96E-06
2233 60 I/T 140 rs1364650008 0.0552 None gnomAD-4.0.0 4.7726E-06
2233 60 I/V 140 rs1574638831 0.0552 None gnomAD-4.0.0 2.05239E-06
2234 61 L/M 141 rs766750289 0.1993 None gnomAD-2.1.1 1.59E-05
2234 61 L/M 141 rs766750289 0.1993 None gnomAD-3.1.2 1.31E-05
2234 61 L/M 141 rs766750289 0.1993 None gnomAD-4.0.0 4.33727E-06
2234 61 L/P 141 rs534604830 0.1993 None gnomAD-2.1.1 7.96E-06
2234 61 L/P 141 rs534604830 0.1993 None gnomAD-3.1.2 6.57E-06
2234 61 L/P 141 rs534604830 0.1993 None 1000 genomes 1.99681E-04
2234 61 L/P 141 rs534604830 0.1993 None gnomAD-4.0.0 2.56096E-06
2234 61 L/Q 141 None 0.1993 None gnomAD-4.0.0 1.59084E-06
2235 62 T/I 143 rs1381061706 0.5099 None gnomAD-4.0.0 6.8413E-07
2235 62 T/S 143 None 0.5099 None gnomAD-4.0.0 6.8413E-07
2236 63 I/F 144 rs1328042181 0.0860 None gnomAD-2.1.1 3.18E-05
2236 63 I/F 144 rs1328042181 0.0860 None gnomAD-3.1.2 6.57E-06
2236 63 I/F 144 rs1328042181 0.0860 None gnomAD-4.0.0 6.57237E-06
2236 63 I/S 144 None 0.0860 None gnomAD-4.0.0 6.84131E-07
2236 63 I/T 144 rs1189735228 0.0860 None gnomAD-2.1.1 7.96E-06
2236 63 I/T 144 rs1189735228 0.0860 None gnomAD-4.0.0 2.73652E-06
2236 63 I/V 144 rs1328042181 0.0860 None gnomAD-4.0.0 3.18224E-06
2237 64 D/V 145 None 0.3717 None gnomAD-4.0.0 1.59083E-06
2238 65 T/A 146 rs747377115 0.7146 None gnomAD-2.1.1 3.98E-06
2238 65 T/A 146 rs747377115 0.7146 None gnomAD-4.0.0 6.84129E-07
2238 65 T/K 146 None 0.7146 None gnomAD-4.0.0 6.84146E-07
2238 65 T/M 146 rs201284459 0.7146 None gnomAD-2.1.1 1.62834E-04
2238 65 T/M 146 rs201284459 0.7146 None gnomAD-3.1.2 5.26E-05
2238 65 T/M 146 rs201284459 0.7146 None gnomAD-4.0.0 1.17733E-04
2238 65 T/P 146 rs747377115 0.7146 None gnomAD-4.0.0 1.23143E-05
2238 65 T/R 146 rs201284459 0.7146 None gnomAD-2.1.1 2.39E-05
2238 65 T/R 146 rs201284459 0.7146 None gnomAD-3.1.2 6.57E-06
2238 65 T/R 146 rs201284459 0.7146 None 1000 genomes 1.99681E-04
2238 65 T/R 146 rs201284459 0.7146 None gnomAD-4.0.0 1.11528E-05
2239 66 S/A 148 None 0.5479 None gnomAD-4.0.0 1.59081E-06
2239 66 S/F 148 rs1486541995 0.5479 None gnomAD-2.1.1 7.08E-06
2239 66 S/F 148 rs1486541995 0.5479 None gnomAD-3.1.2 6.57E-06
2239 66 S/F 148 rs1486541995 0.5479 None gnomAD-4.0.0 3.71776E-06
2240 67 D/E 149 rs149404931 0.1460 None gnomAD-2.1.1 1.42E-05
2240 67 D/E 149 rs149404931 0.1460 None gnomAD-3.1.2 3.94E-05
2240 67 D/E 149 rs149404931 0.1460 None gnomAD-4.0.0 3.94151E-05
2240 67 D/G 149 rs745532581 0.1460 None gnomAD-2.1.1 7.08E-06
2240 67 D/G 149 rs745532581 0.1460 None gnomAD-3.1.2 6.57E-06
2240 67 D/G 149 rs745532581 0.1460 None gnomAD-4.0.0 1.85904E-06
2240 67 D/N 149 rs769846959 0.1460 None gnomAD-2.1.1 2.83E-05
2240 67 D/N 149 rs769846959 0.1460 None gnomAD-3.1.2 1.31E-05
2240 67 D/N 149 rs769846959 0.1460 None gnomAD-4.0.0 2.43354E-05
2241 68 A/D 151 None 0.2263 None gnomAD-4.0.0 1.59088E-06
2243 70 D/Y 153 rs138787974 0.3899 None gnomAD-2.1.1 2.66611E-03
2243 70 D/Y 153 rs138787974 0.3899 None gnomAD-3.1.2 7.17225E-03
2243 70 D/Y 153 rs138787974 0.3899 None 1000 genomes 8.38658E-03
2243 70 D/Y 153 rs138787974 0.3899 None gnomAD-4.0.0 1.39629E-03
2244 71 Y/C 154 None 0.0934 None gnomAD-4.0.0 8.40229E-06
2245 72 S/G 155 None 0.1491 None gnomAD-4.0.0 2.40065E-06
2245 72 S/N 155 rs749033972 0.1491 None gnomAD-2.1.1 3.98E-06
2246 73 C/G 156 rs1484766954 0.0620 None gnomAD-2.1.1 3.98E-06
2246 73 C/G 156 rs1484766954 0.0620 None gnomAD-3.1.2 6.57E-06
2246 73 C/G 156 rs1484766954 0.0620 None gnomAD-4.0.0 3.84249E-06
2251 78 D/E 162 None 0.7828 None gnomAD-4.0.0 1.36839E-06
2251 78 D/H 162 rs942953757 0.7828 None gnomAD-2.1.1 3.99E-06
2251 78 D/H 162 rs942953757 0.7828 None gnomAD-4.0.0 2.73742E-06
2251 78 D/N 162 rs942953757 0.7828 None gnomAD-3.1.2 6.57E-06
2251 78 D/N 162 rs942953757 0.7828 None gnomAD-4.0.0 6.57263E-06
2251 78 D/V 162 None 0.7828 None gnomAD-4.0.0 1.20032E-06
2253 80 N/K 165 rs1296864074 0.3532 None gnomAD-2.1.1 7.97E-06
2253 80 N/K 165 rs1296864074 0.3532 None gnomAD-4.0.0 3.18242E-06
2254 81 V/D 166 None 0.1720 None gnomAD-4.0.0 1.59473E-06
2254 81 V/I 166 rs1401971730 0.1720 None gnomAD-2.1.1 3.99E-06
2254 81 V/I 166 rs1401971730 0.1720 None gnomAD-4.0.0 1.3685E-06
2255 82 K/N 168 None 0.5416 None gnomAD-4.0.0 3.43349E-06
2255 82 K/R 168 None 0.5416 None gnomAD-4.0.0 1.59126E-06
2256 83 T/A 169 rs1385805778 0.0970 None gnomAD-2.1.1 3.99E-06
2256 83 T/M 169 rs780758720 0.0970 None gnomAD-2.1.1 1.77E-05
2256 83 T/M 169 rs780758720 0.0970 None gnomAD-3.1.2 1.97E-05
2256 83 T/M 169 rs780758720 0.0970 None gnomAD-4.0.0 2.72676E-05
2257 84 T/A 171 None 0.4761 None gnomAD-4.0.0 1.59137E-06
2257 84 T/I 171 None 0.4761 None gnomAD-4.0.0 6.84239E-07
2257 84 T/S 171 rs755999681 0.4761 None gnomAD-2.1.1 7.09E-05
2257 84 T/S 171 rs755999681 0.4761 None gnomAD-3.1.2 3.94E-05
2257 84 T/S 171 rs755999681 0.4761 None gnomAD-4.0.0 1.73518E-05
2258 85 A/V 172 rs72647881 0.1202 None gnomAD-2.1.1 7.98E-06
2258 85 A/V 172 rs72647881 0.1202 None gnomAD-3.1.2 1.97E-05
2258 85 A/V 172 rs72647881 0.1202 None gnomAD-4.0.0 5.12501E-06
2259 86 K/E 173 None 0.4352 None gnomAD-4.0.0 2.05276E-06
2259 86 K/Q 173 None 0.4352 None gnomAD-4.0.0 6.84252E-07
2260 87 L/I 174 rs370058135 0.1062 None gnomAD-2.1.1 2E-05
2260 87 L/I 174 rs370058135 0.1062 None gnomAD-4.0.0 4.78987E-06
2261 88 I/L 175 rs755035176 0.4438 None gnomAD-2.1.1 3.99E-06
2261 88 I/L 175 rs755035176 0.4438 None gnomAD-3.1.2 6.57E-06
2261 88 I/L 175 rs755035176 0.4438 None gnomAD-4.0.0 1.23939E-06
2261 88 I/T 175 rs751757338 0.4438 None gnomAD-2.1.1 7.1E-06
2261 88 I/T 175 rs751757338 0.4438 None gnomAD-3.1.2 6.57E-06
2261 88 I/T 175 rs751757338 0.4438 None gnomAD-4.0.0 3.7184E-06
2261 88 I/V 175 None 0.4438 None gnomAD-4.0.0 6.84276E-07
2262 89 V/I 177 rs1430183288 0.8774 None gnomAD-2.1.1 3.99E-06
2262 89 V/I 177 rs1430183288 0.8774 None gnomAD-4.0.0 1.59173E-06