dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
SNP linked to Gene (geneID:8932) Via Contig Annotation

rs# on all gene models to Batch Query
all rs# to file.

  Gene Model (mRNA alignment) information from genome sequence back to top
Total gene model (contig mRNA transcript): 2
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_015832.4minus strandNP_056647.1reverseNT_010966.15GRCh38.p7<- currently shown
NM_003927.4minus strandNP_003918.1reverseNT_010966.15GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_010966.15NM_015832.4NP_056647.1reverseminus strand380, coding

Region Chr.
dbSNP rs#
cluster id
Validation MAF Allele
3D Linkout Function dbSNP
Amino acid
541597781464 rs1482467640 N.D. synonymousG2412
contig referenceA2412
541597821460 rs1464129893 N.D. missenseAThr [T]1411
contig referenceGAla [A]1411
541597861456 rs753256663 0.000byFreq synonymousCAsp [D]3409
contig referenceTAsp [D]3409
541597881454 rs758637766 0.000 missenseAAsn [N]1409
contig referenceGAsp [D]1409
541597891453 rs1402833866 N.D. synonymousCGly [G]3408
contig referenceAGly [G]3408
541597941448 rs777882336 N.D. missenseGGly [G]1407
contig referenceASer [S]1407
541597951447 rs200099603 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGGlu [E]3406
synonymousTAsp [D]3406
contig referenceCAsp [D]3406
541597971445 rs1295213709 N.D. missenseAAsn [N]1406
contig referenceGAsp [D]1406
541598001442 rs528143714 0.000With1000GenomeData0.0002 missenseGVal [V]1405
contig referenceAMet [M]1405
541598061436 rs780879642 0.000byFreq missenseGVal [V]1403
contig referenceAIle [I]1403
541598081434 rs887780098 N.D. missenseGGly [G]2402
contig referenceAAsp [D]2402
541598131429 rs1296349034 N.D. missenseTAsp [D]3400
contig referenceGGlu [E]3400
541598271415 rs745365599 0.000 missenseAThr [T]1396
contig referenceGAla [A]1396
541598291413 rs943386502 N.D. missenseGGly [G]2395
contig referenceCAla [A]2395
541598311411 rs1264803251 N.D. synonymousGArg [R]3394
contig referenceAArg [R]3394
541598321410 rs368957707 0.000byClusterbyFreq missenseAGln [Q]2394
contig referenceGArg [R]2394
541598341408 rs139144092 0.000byClusterbyFreq synonymousASer [S]3393
contig referenceGSer [S]3393
541598351407 rs749272092 0.000 missenseTLeu [L]2393
contig referenceCSer [S]2393
541598361406 rs1276887773 N.D. missenseCPro [P]1393
contig referenceTSer [S]1393
541598421400 rs768533356 0.000byFreq missenseCLeu [L]1391
contig referenceAIle [I]1391
541598481394 rs1464140272 N.D. missenseAThr [T]1389
contig referenceGAla [A]1389
541598521390 rs563047274 N.D. synonymousCLeu [L]3387
contig referenceGLeu [L]3387
541598551387 rs1293262814 N.D. synonymousGAla [A]3386
contig referenceAAla [A]3386
541598581384 rs556815249 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseCAsp [D]3385
contig referenceAGlu [E]3385
541598741368 rs1421232155 N.D. missenseAHis [H]2380
contig referenceGArg [R]2380
541598751367 rs1160707623 N.D. missenseTCys [C]1380
contig referenceCArg [R]1380
541598821360 rs761752766 0.000byFreq missenseTHis [H]3377
synonymousAGln [Q]3377
contig referenceGGln [Q]3377
541598891353 rs1429900056 N.D. missenseAGln [Q]2375
contig referenceGArg [R]2375
541598901352 rs1470948670 N.D. nonsenseT1375
contig referenceCArg [R]1375
541599031339 rs1318267187 N.D. synonymousAArg [R]3370
contig referenceGArg [R]3370
541645271334 rs112080567 0.500 missenseGVal [V]1369
contig referenceAIle [I]1369
541645281333 rs748792138 0.000 synonymousTAsp [D]3368
contig referenceCAsp [D]3368
541645471314 rs1477091611 N.D. missenseCSer [S]2362
contig referenceTPhe [F]2362
541645491312 rs768694912 0.000byFreq synonymousGAla [A]3361
contig referenceTAla [A]3361
541645501311 rs779054885 0.000byFreq missenseTVal [V]2361
contig referenceCAla [A]2361
541645531308 rs1210070420 N.D. missenseGArg [R]2360
contig referenceALys [K]2360
541645611300 rs1347170581 N.D. synonymousTPro [P]3357
contig referenceCPro [P]3357
541645701291 rs1434649736 N.D. synonymousCThr [T]3354
contig referenceAThr [T]3354
541645711290 rs1302599038 N.D. missenseTIle [I]2354
contig referenceCThr [T]2354
541645841277 rs1289789766 N.D. missenseAIle [I]1350
contig referenceGVal [V]1350
541645881273 rs61753467 0.006byClusterbyFreqWith1000GenomeData0.0078 synonymousCPro [P]3348
contig referenceTPro [P]3348
541645971264 rs571919409 N.D. synonymousGGlu [E]3345
contig referenceAGlu [E]3345
541646051256 rs772002293 0.000 missenseTSer [S]1343
contig referenceGAla [A]1343
541646071254 rs1329077503 N.D. missenseTVal [V]2342
contig referenceCAla [A]2342
541646081253 rs182260595 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAThr [T]1342
missenseTSer [S]1342
contig referenceGAla [A]1342
541646091252 rs769946722 0.000byFreq synonymousTSer [S]3341
contig referenceCSer [S]3341
541646141247 rs775615272 0.000 missenseAIle [I]1340
contig referenceGVal [V]1340
541646181243 rs1220421713 N.D. synonymousCGly [G]3338
contig referenceGGly [G]3338
541646241237 rs763077704 0.000 synonymousAIle [I]3336
contig referenceCIle [I]3336
541646261235 rs373981112 0.000byClusterbyFreq missenseGVal [V]1336
contig referenceAIle [I]1336
541646291232 rs752065327 0.000 missenseTSer [S]1335
contig referenceCPro [P]1335
541646301231 rs375244494 0.000byClusterbyFreq synonymousAAla [A]3334
synonymousTAla [A]3334
contig referenceGAla [A]3334
541646311230 rs201919549 0.000byClusterbyFreq missenseTVal [V]2334
contig referenceCAla [A]2334
541646401221 rs755763266 0.000 missenseTIle [I]2331
contig referenceCThr [T]2331
541646411220 rs765999642 0.000byClusterbyFreq missenseGAla [A]1331
contig referenceAThr [T]1331
541646421219 rs77556742 0.000byClusterWith1000GenomeData0.0002 missenseGGln [Q]3330
contig referenceCHis [H]3330
541646451216 rs1404587785 N.D. missenseCPhe [F]3329
synonymousALeu [L]3329
contig referenceGLeu [L]3329
541646511210 rs369348072 0.000byCluster synonymousCSer [S]3327
contig referenceTSer [S]3327
541646541207 rs760889540 0.000byFreq synonymousAAla [A]3326
contig referenceCAla [A]3326
541646561205 rs111846150 N.D.byCluster missenseCPro [P]1326
missenseTSer [S]1326
contig referenceGAla [A]1326
541646591202 rs1163965879 N.D. missenseAIle [I]1325
contig referenceGVal [V]1325
541646621199 rs748114272 0.000 missenseAThr [T]1324
contig referenceGAla [A]1324
541646641197 rs758224187 0.000byFreq missenseTPhe [F]2323
contig referenceCSer [S]2323
541646691192 rs777589902 0.000 synonymousGLeu [L]3321
contig referenceTLeu [L]3321
541646711190 rs1443619926 N.D. missenseAIle [I]1321
contig referenceCLeu [L]1321
541646721189 rs1281603219 N.D. synonymousGThr [T]3320
contig referenceCThr [T]3320
541646741187 rs746826101 0.000byFreq missenseGAla [A]1320
contig referenceAThr [T]1320
541646751186 rs1415648646 N.D. missenseCAsp [D]3319
contig referenceGGlu [E]3319
541646761183 rs1245727933 N.D. -3318
541646851176 rs1315232563 N.D. missenseAAsn [N]2316
contig referenceGSer [S]2316
541660761160 rs1462798064 N.D. nonsenseT1311
contig referenceGGly [G]1311
541660871149 rs746814558 0.000 missenseGArg [R]2307
contig referenceALys [K]2307
541660881148 rs1372742758 N.D. missenseGGlu [E]1307
contig referenceALys [K]1307
541660901146 rs1295643686 N.D. missenseTLeu [L]2306
contig referenceCPro [P]2306
541660941142 rs550327577 0.000byFreqWith1000GenomeData0.0002 synonymousTLeu [L]1305
contig referenceCLeu [L]1305
541660971139 rs780264033 0.000 missenseALys [K]1304
contig referenceGGlu [E]1304
541661001136 rs1423668139 N.D. missenseGVal [V]1303
contig referenceAMet [M]1303
541661011135 rs1469785598 N.D. synonymousGThr [T]3302
contig referenceCThr [T]3302
541661041132 rs749560980 0.000byFreq missenseCAsn [N]3301
contig referenceALys [K]3301
541661071129 rs768691066 0.000 missenseGMet [M]3300
contig referenceAIle [I]3300
541661161120 rs1433381734 N.D. synonymousGGlu [E]3297
contig referenceAGlu [E]3297
541661281108 rs1172928549 N.D. synonymousGSer [S]3293
contig referenceASer [S]3293
541661291107 rs1290713520 N.D. nonsenseG2293
contig referenceCSer [S]2293
541661331103 rs1317132710 N.D. missenseAThr [T]1292
contig referenceGAla [A]1292
541661341102 rs774373878 0.000 missenseAArg [R]3291
contig referenceTSer [S]3291
541661351101 rs1432736456 N.D. missenseCThr [T]2291
contig referenceGSer [S]2291
541661361100 rs1348033525 N.D. missenseGGly [G]1291
contig referenceASer [S]1291
541661411095 rs1432279405 N.D. missenseTVal [V]2289
contig referenceGGly [G]2289
541661461090 rs1388595617 N.D. synonymousGLeu [L]3287
contig referenceALeu [L]3287
541661491087 rs141730932 0.000byClusterWith1000GenomeData0.0002 synonymousAArg [R]3286
contig referenceGArg [R]3286
541661551081 rs772569943 0.000byFreq synonymousAGlu [E]3284
contig referenceGGlu [E]3284
541661661070 rs1340434010 N.D. missenseGVal [V]1281
contig referenceCLeu [L]1281
541888791064 rs747514913 0.000byFreq missenseTCys [C]1279
contig referenceCArg [R]1279
541888851058 rs1260501801 N.D. missenseALys [K]1277
contig referenceCGln [Q]1277
541888931050 rs1207081038 N.D. missenseCThr [T]2274
contig referenceTMet [M]2274
541889011042 rs771505040 0.000 synonymousTPro [P]3271
contig referenceAPro [P]3271
541889041039 rs200843117 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTAsp [D]3270
contig referenceCAsp [D]3270
541889241019 rs1378730948 N.D. missenseGGly [G]1264
contig referenceASer [S]1264
541889251018 rs200382180 0.000byClusterWith1000GenomeData0.0002 synonymousCPro [P]3263
contig referenceTPro [P]3263
541889281015 rs769506412 0.000 synonymousCHis [H]3262
contig referenceTHis [H]3262
541889291014 rs775350753 0.000 missenseGArg [R]2262
contig referenceAHis [H]2262
541889341009 rs1181505401 N.D. synonymousCThr [T]3260
contig referenceAThr [T]3260
541889371006 rs762513492 0.000 synonymousTVal [V]3259
contig referenceCVal [V]3259
541889391004 rs1455702342 N.D. missenseAIle [I]1259
contig referenceGVal [V]1259
541889411002 rs1161043459 N.D. missenseGArg [R]2258
contig referenceALys [K]2258
541889431000 rs199780930 0.000byClusterbyFreq synonymousTThr [T]3257
contig referenceCThr [T]3257
54188949994 rs867194627 N.D. synonymousTPro [P]3255
contig referenceGPro [P]3255
54188953990 rs1424668530 N.D. missenseGArg [R]2254
contig referenceAGln [Q]2254
54188963980 rs751482492 0.000 missenseGVal [V]1251
contig referenceAIle [I]1251
54188981962 rs1357267049 N.D. missenseGVal [V]1245
contig referenceAIle [I]1245
54188988955 rs761615321 0.000 synonymousGThr [T]3242
contig referenceAThr [T]3242
54188988953 rs1296310963 N.D. -1242
54188992951 rs77251753 N.D.byCluster missenseTIle [I]2241
contig referenceCThr [T]2241
54188997946 rs550954262 0.000byFreqWith1000GenomeData0.0004 missenseTPhe [F]3239
contig referenceGLeu [L]3239
54189002941 rs373847404 0.000byCluster missenseTTyr [Y]1238
contig referenceGAsp [D]1238
54189004939 rs755904678 0.000byFreq missenseTLeu [L]2237
contig referenceCPro [P]2237
54189010933 rs562865980 0.000With1000GenomeData0.0002 missenseTVal [V]2235
contig referenceGGly [G]2235
54189011932 rs1242364349 N.D. missenseCArg [R]1235
contig referenceGGly [G]1235
54205007922 rs370603629 N.D.byCluster synonymousCAsn [N]3231
contig referenceTAsn [N]3231
54205008921 rs1231593947 N.D. missenseGSer [S]2231
contig referenceAAsn [N]2231
54205010919 rs150883663 0.000byClusterbyFreq synonymousTLeu [L]3230
contig referenceCLeu [L]3230
54205011918 rs1322499665 N.D. missenseCPro [P]2230
contig referenceTLeu [L]2230
54205015914 rs1017350966 N.D. missenseTSer [S]1229
contig referenceCPro [P]1229
54205018911 rs780970674 0.000 missenseAAsn [N]1228
contig referenceGAsp [D]1228
54205019910 rs957878829 N.D. synonymousTAsn [N]3227
contig referenceCAsn [N]3227
54205023906 rs745860253 0.000byFreq missenseAGln [Q]2226
contig referenceGArg [R]2226
54205032894 rs760961363 0.000 frame shift-Arg [R]2222
contig referenceAACALys [K]2222
54205034895 rs542096529 0.000With1000GenomeData0.0002 missenseTAsn [N]3222
contig referenceALys [K]3222
54205038891 rs976665663 N.D. missenseGSer [S]2221
contig referenceAAsn [N]2221
54205041888 rs769651294 0.000 missenseGArg [R]2220
contig referenceALys [K]2220
54205053876 rs553980268 0.000With1000GenomeData0.0002 missenseCThr [T]2216
contig referenceGSer [S]2216
54205055874 rs1196398276 N.D. synonymousAPro [P]3215
synonymousCPro [P]3215
contig referenceTPro [P]3215
54205082847 rs1010737131 N.D. synonymousCPhe [F]3206
contig referenceTPhe [F]3206
54205091838 rs775377189 0.000byFreq synonymousTLeu [L]3203
contig referenceCLeu [L]3203
54205099830 rs529920541 N.D. missenseAIle [I]1201
contig referenceGVal [V]1201
54205102827 rs762854856 0.000 missenseGAla [A]1200
contig referenceAThr [T]1200
54205104825 rs772353899 0.000byFreq missenseGSer [S]2199
contig referenceAAsn [N]2199
54205108821 rs1403873073 N.D. missenseAArg [R]1198
contig referenceGGly [G]1198
54205111818 rs1398632895 N.D. synonymousTLeu [L]1197
contig referenceCLeu [L]1197
54205113816 rs773633248 0.000 missenseGCys [C]2196
contig referenceATyr [Y]2196
54205115814 rs1443591617 N.D. synonymousAArg [R]3195
contig referenceGArg [R]3195
54205116813 rs1326447492 N.D. missenseALys [K]2195
contig referenceGArg [R]2195
54205117812 rs760822467 0.000byFreq missenseGGly [G]1195
contig referenceAArg [R]1195
54205120809 rs766526603 0.000byFreq missenseTSer [S]1194
contig referenceGAla [A]1194
54205123806 rs754266517 0.000 synonymousCLeu [L]1193
contig referenceTLeu [L]1193
54224021768 rs769085700 0.000 missenseATyr [Y]2180
contig referenceTPhe [F]2180
54224023766 rs1170409237 N.D. synonymousTTyr [Y]3179
contig referenceCTyr [Y]3179
54224029760 rs774785641 0.000byFreq synonymousTVal [V]3177
contig referenceCVal [V]3177
54224032757 rs762223673 0.000 synonymousCAsp [D]3176
contig referenceTAsp [D]3176
54224035754 rs772369419 0.000 missenseAArg [R]3175
contig referenceCSer [S]3175
54224036753 rs1424838586 N.D. missenseCThr [T]2175
contig referenceGSer [S]2175
54224041748 rs772888539 0.000 synonymousGGly [G]3173
contig referenceCGly [G]3173
54224045744 rs868719861 N.D.byCluster missenseTVal [V]2172
contig referenceCAla [A]2172
54224050739 rs1001565712 N.D. synonymousGLeu [L]3170
contig referenceALeu [L]3170
54224051738 rs565039472 0.000With1000GenomeData0.0002 missenseAGln [Q]2170
missenseGArg [R]2170
contig referenceTLeu [L]2170
54224052737 rs1298933062 N.D. missenseAIle [I]1170
synonymousTLeu [L]1170
contig referenceCLeu [L]1170
54224059730 rs760360471 0.000 synonymousGLys [K]3167
contig referenceALys [K]3167
54224060729 rs1423511958 N.D. missenseTIle [I]2167
contig referenceALys [K]2167
54224068721 rs1403593325 N.D. synonymousAVal [V]3164
contig referenceGVal [V]3164
54224071718 rs766149091 0.000byFreq synonymousGGlu [E]3163
contig referenceAGlu [E]3163
54224075714 rs753336754 0.000 missenseGGly [G]2162
contig referenceAGlu [E]2162
54224078711 rs1414749140 N.D. missenseGArg [R]2161
contig referenceALys [K]2161
54224086703 rs1221295858 N.D. synonymousGGly [G]3158
contig referenceAGly [G]3158
54224087701 rs866285494 N.D. frame shiftCAla [A]1158
contig reference-Gly [G]1158
54224088700 rs779813082 0.000byFreq frame shiftCArg [R]3158
contig reference-Gly [G]3158
54224089700 rs755716804 0.000byFreq frame shift-Asp [D]3158
contig referenceCGly [G]3158
54224089700 rs759118166 0.000 synonymousGPro [P]3157
contig referenceCPro [P]3157
54224090699 rs765210506 0.000byFreq missenseAHis [H]2157
missenseGArg [R]2157
contig referenceCPro [P]2157
54224091698 rs752630383 0.000byFreq missenseAThr [T]1157
missenseGAla [A]1157
missenseTSer [S]1157
contig referenceCPro [P]1157
54224092697 rs1287594575 N.D. synonymousAPro [P]3156
contig referenceCPro [P]3156
54224095694 rs758184413 0.000 synonymousTLeu [L]3155
contig referenceCLeu [L]3155
54224096693 rs1221591127 N.D. missenseCPro [P]2155
contig referenceTLeu [L]2155
54224100689 rs777394946 0.000byFreq missenseAThr [T]1154
contig referenceGAla [A]1154
54224101688 rs1489301629 N.D. synonymousAPro [P]3153
contig referenceGPro [P]3153
54224102687 rs1175333202 N.D. missenseTLeu [L]2153
contig referenceCPro [P]2153
54224104685 rs751392566 0.000byFreq synonymousTCys [C]3152
contig referenceCCys [C]3152
54224116647 rs748976271 0.000 -1140
54224116673 rs1159504850 N.D. synonymousALys [K]3148
contig referenceGLys [K]3148
54224119670 rs1382195452 N.D. synonymousAGly [G]3147
contig referenceGGly [G]3147
54224122667 rs756272137 0.000 missenseGArg [R]3146
contig referenceCSer [S]3146
54224125664 rs1323398130 N.D. synonymousAGlu [E]3145
contig referenceGGlu [E]3145
54224129660 rs780260496 0.000 missenseTMet [M]2144
contig referenceCThr [T]2144
54224132657 rs1229551736 N.D. missenseGGly [G]2143
contig referenceCAla [A]2143
54224133656 rs749366777 0.000 missenseCPro [P]1143
contig referenceGAla [A]1143
54224136653 rs768780939 0.000 missenseTTrp [W]1142
contig referenceCArg [R]1142
54224137652 rs779450887 0.000 synonymousTPro [P]3141
contig referenceCPro [P]3141
54224139650 rs748643024 0.000 missenseTSer [S]1141
contig referenceCPro [P]1141
54224141648 rs768499680 0.000 frame shift-Asp [D]2140
contig referenceGGly [G]2140
54224142647 rs1356571384 N.D. missenseAArg [R]1140
contig referenceGGly [G]1140
54224150639 rs975099657 N.D. missenseTVal [V]2137
contig referenceGGly [G]2137
54224151638 rs920969076 N.D. missenseCArg [R]1137
contig referenceGGly [G]1137
54224153636 rs772661777 0.000 missenseTLeu [L]2136
contig referenceCPro [P]2136
54224154635 rs1202139329 N.D. missenseTSer [S]1136
contig referenceCPro [P]1136
54224158631 rs1232049996 N.D. synonymousAAla [A]3134
contig referenceGAla [A]3134
54224159630 rs1458063510 N.D. missenseTVal [V]2134
contig referenceCAla [A]2134
54224161628 rs1179426285 N.D. synonymousTSer [S]3133
contig referenceCSer [S]3133
54224162627 rs1240263488 N.D. missenseAAsn [N]2133
missenseTIle [I]2133
contig referenceGSer [S]2133
54224164625 rs773396422 0.000 synonymousCGly [G]3132
synonymousTGly [G]3132
contig referenceGGly [G]3132
54224165624 rs761131682 0.000 missenseTVal [V]2132
contig referenceGGly [G]2132
54224168621 rs955088364 N.D. missenseGTrp [W]2131
missenseTLeu [L]2131
contig referenceCSer [S]2131
54224170619 rs1407615954 N.D. synonymousAPro [P]3130
synonymousTPro [P]3130
contig referenceGPro [P]3130
54224171618 rs770638917 0.000byFreq missenseGArg [R]2130
missenseTLeu [L]2130
contig referenceCPro [P]2130
54224173616 rs1399965664 N.D. missenseGLeu [L]3129
contig referenceCPhe [F]3129
54224177612 rs1408423760 N.D. missenseGArg [R]2128
contig referenceCPro [P]2128
54224178611 rs924755243 N.D. missenseTSer [S]1128
contig referenceCPro [P]1128
54224179610 rs1466483663 N.D. synonymousTVal [V]3127
contig referenceCVal [V]3127
54224182607 rs759097721 0.001 synonymousAPro [P]3126
synonymousCPro [P]3126
synonymousTPro [P]3126
contig referenceGPro [P]3126
54224183606 rs1265198224 N.D. missenseGArg [R]2126
contig referenceCPro [P]2126
54224185604 rs1380210498 N.D. missenseTAsp [D]3125
contig referenceGGlu [E]3125
54224194595 rs1055060945 N.D. synonymousGPro [P]3122
contig referenceCPro [P]3122
54224196593 rs1246931077 N.D. missenseTSer [S]1122
contig referenceCPro [P]1122
54224198591 rs764698236 N.D. missenseTVal [V]2121
contig referenceCAla [A]2121
54224199567 rs778950652 N.D. -2113
54224199589 rs1216502878 N.D. (15bp) [SGGGG]3120
54224199558 rs1218679079 N.D. -2110
54224199573 rs1223405654 N.D. -2115
54224199570 rs1305392838 N.D. -2114
54224199590 rs1446637242 N.D. missenseAThr [T]1121
missenseTSer [S]1121
contig referenceGAla [A]1121
54224200560 rs1281863709 N.D. -1111
54224202587 rs1284319489 N.D. missenseASer [S]1120
contig referenceGGly [G]1120
54224203586 rs914820079 N.D. synonymousTGly [G]3119
contig referenceCGly [G]3119
54224203575 rs1368821947 N.D. -1116
54224205583 rs1440354334 N.D. (9bp) [SGG]3118
54224208580 rs1380747410 N.D. AGCGGT [SG]3117
54224208581 rs1399794897 N.D. missenseTCys [C]1118
contig referenceGGly [G]1118
54224209579 rs1332162772 N.D. CAGCGG [SG]2117
54224211577 rs748114311 0.007byFreq AGCSer [S]3116
54224212577 rs1173785759 N.D. synonymousTSer [S]3116
contig referenceCSer [S]3116
54224212560 rs1425707259 N.D. -1111
54224214574 rs756585233 0.033byClusterbyFreq (9bp) [GGG]3115
GGCGly [G]3115
54224214575 rs949024403 N.D. missenseGGly [G]1116
missenseTCys [C]1116
contig referenceASer [S]1116
54224215566 rs907210552 N.D. -1113
54224215569 rs1044364259 N.D. -1114
54224215572 rs1198738552 N.D. -1115
54224215574 rs1451053482 N.D. synonymousTGly [G]3115
contig referenceCGly [G]3115
54224216572 rs1222387385 N.D. (24bp) [cds-indel]1114
54224217572 rs184723505 0.038byClusterWith1000GenomeData missenseASer [S]1115
contig referenceGGly [G]1115
54224217571 rs1233231855 N.D. (12bp) [CGGG]3114
54224218560 rs1303913047 N.D. -1111
54224219569 rs1318244208 N.D. (21bp) [cds-indel]1113
54224219570 rs1376469348 N.D. missenseAAsp [D]2114
contig referenceGGly [G]2114
54224220568 rs1002929606 N.D. (12bp) [CGGG]3113
(9bp) [CGG]3113
54224220569 rs1404086506 N.D. missenseASer [S]1114
contig referenceGGly [G]1114
54224221568 rs532678502 0.000With1000GenomeData0.0002 synonymousAGly [G]3113
contig referenceCGly [G]3113
54224221560 rs1047859468 N.D. -1111
54224222566 rs1193639728 N.D. (18bp) [DGGGCG]1112
54224224560 rs886547766 N.D. -1111
54224224564 rs1476611642 N.D. GGGGly [G]2115
54224225564 rs1437526306 N.D. missenseAAsp [D]2112
contig referenceGGly [G]2112
54224226562 rs773398208 0.080 frame shift-Trp [W]3111
contig referenceCGCys [C]3111
54224227562 rs550752879 0.000With1000GenomeData0.0002 synonymousTCys [C]3111
contig referenceCCys [C]3111
54224227560 rs1411164198 N.D. -1111
54224228561 rs569241154 0.006byFreqWith1000GenomeData0.0028 missenseTPhe [F]2111
contig referenceGCys [C]2111
54224229560 rs530077528 0.000With1000GenomeData0.0002 missenseCArg [R]1111
missenseGGly [G]1111
contig referenceTCys [C]1111
54224229559 rs747155692 0.105 frame shiftCTLeu [L]3111
contig reference-Cys [C]3111
54224231557 rs1483882174 N.D. (9bp) [DGG]1109
54224232557 rs1260217389 N.D. missenseASer [S]1110
missenseTCys [C]1110
contig referenceGGly [G]1110
54224234554 rs1004038075 N.D. ACGGCG [DG]1108
54224235554 rs1366947016 N.D. missenseTCys [C]1109
contig referenceGGly [G]1109
54224237552 rs1310445245 N.D. missenseAAsp [D]2108
contig referenceGGly [G]2108
54224240549 rs1242663921 N.D. missenseCAla [A]2107
missenseGGly [G]2107
contig referenceAAsp [D]2107
54224241546 rs1017214268 N.D. -2106
54224241548 rs1396640784 N.D. missenseAAsn [N]1107
contig referenceGAsp [D]1107
54224242547 rs1379819106 N.D. synonymousTGly [G]3106
contig referenceCGly [G]3106
54224244545 rs1304447190 N.D. missenseASer [S]1106
contig referenceGGly [G]1106
54224255534 rs1398014663 N.D. missenseCThr [T]2102
contig referenceGSer [S]2102
54224263526 rs1359723396 N.D. missenseGArg [R]399
contig referenceTSer [S]399
54224265524 rs1297535405 N.D. missenseGGly [G]199
contig referenceASer [S]199
54224266523 rs1159001805 N.D. synonymousAPro [P]398
contig referenceGPro [P]398
54224268521 rs1421181443 N.D. missenseGAla [A]198
contig referenceCPro [P]198
54224271518 rs962656284 N.D. missenseTSer [S]197
contig referenceCPro [P]197
54224276513 rs1432660454 N.D. missenseAAsp [D]295
contig referenceGGly [G]295
54224278510 rs1258878992 N.D. GGGCCG [GR]296
54224278511 rs1423833686 N.D. synonymousTArg [R]394
contig referenceCArg [R]394
54224279505 rs1192209202 N.D. -395
54224279499 rs1488242432 N.D. -393
54224280509 rs997172337 N.D. missenseTCys [C]194
contig referenceCArg [R]194
54224281508 rs1355910937 N.D. synonymousTGly [G]393
contig referenceCGly [G]393
54224284505 rs1240145095 N.D. synonymousCArg [R]392
synonymousTArg [R]392
contig referenceGArg [R]392
54224285504 rs1027914292 N.D. missenseAGln [Q]292
contig referenceGArg [R]292
54224285475 rs1354549831 N.D. -387
54224286503 rs1229145732 N.D. frame shift-Gly [G]192
contig referenceCArg [R]192
54224287502 rs1294017140 N.D. synonymousAGly [G]391
contig referenceCGly [G]391
54224288490 rs1342408532 N.D. -393
54224290499 rs1460186586 N.D. synonymousTArg [R]390
contig referenceGArg [R]390
54224291498 rs1216473987 N.D. missenseCPro [P]290
contig referenceGArg [R]290
54224291475 rs1398121326 N.D. -389
54224292497 rs1298613797 N.D. missenseTTrp [W]190
contig referenceCArg [R]190
54224293496 rs1388147154 N.D. synonymousAGly [G]389
contig referenceCGly [G]389
54224293495 rs1401562922 N.D. ACGGGG [GR]296
54224294490 rs955056991 N.D. -395
54224299490 rs1449290905 N.D. synonymousCGly [G]387
contig referenceAGly [G]387
54224302487 rs548557651 0.000byClusterWith1000GenomeData0.0002 synonymousTArg [R]386
contig referenceGArg [R]386
54224305484 rs1167895397 N.D. synonymousCGly [G]385
contig referenceAGly [G]385
54224306466 rs1237306698 N.D. -391
54224314475 rs1196329578 N.D. synonymousCArg [R]382
synonymousGArg [R]382
contig referenceTArg [R]382
54224314474 rs1264482647 N.D. GGGCCG [GR]296
54224315463 rs1210718511 N.D. -393
54224315469 rs1267098690 N.D. -395
54224317472 rs1238087518 N.D. synonymousAGly [G]381
contig referenceCGly [G]381
54224320469 rs924349546 N.D. synonymousTArg [R]380
contig referenceGArg [R]380
54224322467 rs1218048946 N.D. missenseTTrp [W]180
contig referenceCArg [R]180
54224323466 rs1317242259 N.D. synonymousTGly [G]379
contig referenceCGly [G]379
54224324465 rs1473832665 N.D. frame shift-Ala [A]279
contig referenceGGly [G]279
54224326462 rs1229349081 N.D. TGGCCG [GR]296
54224326463 rs1278698539 N.D. synonymousAArg [R]378
synonymousTArg [R]378
contig referenceGArg [R]378
54224331458 rs1183844683 N.D. missenseASer [S]177
contig referenceGGly [G]177
54224332457 rs1386514634 N.D. synonymousGArg [R]376
contig referenceTArg [R]376
54224334455 rs1387043103 N.D. missenseTCys [C]176
contig referenceCArg [R]176
54224343444 rs1185233122 N.D. -272
54224347442 rs1423546583 N.D. synonymousTGly [G]371
contig referenceCGly [G]371
54224351438 rs1478350751 N.D. frame shift-Ala [A]270
contig referenceGGly [G]270
54224356433 rs956015116 N.D. synonymousTGly [G]368
contig referenceCGly [G]368
54224357432 rs1173350751 N.D. missenseAAsp [D]268
missenseCAla [A]268
contig referenceGGly [G]268
54224360429 rs1403415744 N.D. missenseGGly [G]267
missenseTVal [V]267
contig referenceCAla [A]267
54224372417 rs1413512118 N.D. missenseCPro [P]263
contig referenceGArg [R]263
54224374415 rs566850076 0.035With1000GenomeData0.0002 synonymousAGly [G]362
synonymousCGly [G]362
contig referenceGGly [G]362
54224384405 rs1360333610 N.D. missenseAHis [H]259
contig referenceGArg [R]259
54224388401 rs990329684 N.D. missenseTCys [C]158
contig referenceGGly [G]158
54224389400 rs1428040108 N.D. synonymousTGly [G]357
contig referenceCGly [G]357
54224397392 rs764106524 0.000byFreq missenseTTrp [W]155
contig referenceCArg [R]155
54224400389 rs1277477066 N.D. missenseCPro [P]154
contig referenceGAla [A]154
54224409380 rs1453570602 N.D. missenseGGly [G]151
contig referenceAArg [R]151
54224412377 rs914725628 N.D. missenseASer [S]150
contig referenceCArg [R]150
54224415374 rs1198103284 N.D. missenseTLeu [L]149
contig referenceGVal [V]149
54224416373 rs1458216440 N.D. synonymousGGly [G]348
contig referenceCGly [G]348
54224417372 rs1341117653 N.D. missenseTVal [V]248
contig referenceGGly [G]248
54224418371 rs534204537 0.042byFreqWith1000GenomeData0.0004 missenseCArg [R]148
contig referenceGGly [G]148
54224425364 rs1216319704 N.D. synonymousAPro [P]345
contig referenceGPro [P]345
54224426363 rs1157919705 N.D. missenseGArg [R]245
missenseTLeu [L]245
contig referenceCPro [P]245
54224426363 rs1281191512 N.D. frame shift-Arg [R]245
contig referenceCPro [P]245
54224429360 rs1344077761 N.D. missenseTPhe [F]244
contig referenceCSer [S]244
54224434355 rs1372755959 N.D. synonymousGAla [A]342
contig referenceCAla [A]342
54224440349 rs1200043477 N.D. synonymousTAla [A]340
contig referenceGAla [A]340
54224446343 rs1402447359 N.D. synonymousAGly [G]338
contig referenceCGly [G]338
54224450339 rs1035321158 N.D. missenseCPro [P]237
contig referenceAGln [Q]237
54224453336 rs757112030 0.000byFreq missenseAAsp [D]236
contig referenceGGly [G]236
54224453336 rs1279623099 N.D. frame shift-Ala [A]236
contig referenceGGly [G]236
54224454335 rs1213816391 N.D. missenseASer [S]136
missenseTCys [C]136
contig referenceGGly [G]136
54224457332 rs1331919291 N.D. missenseAArg [R]135
contig referenceGGly [G]135
54224458331 rs1339709011 N.D. missenseCHis [H]334
contig referenceGGln [Q]334
54224459330 rs960687352 N.D. missenseGArg [R]234
contig referenceAGln [Q]234
54224464325 rs780239962 0.000 synonymousTIle [I]332
contig referenceAIle [I]332
54224467322 rs1413303233 N.D. synonymousTAla [A]331
contig referenceCAla [A]331
54224473316 rs1478463532 N.D. synonymousTAsp [D]329
contig referenceCAsp [D]329
54224475314 rs1196504749 N.D. missenseCHis [H]129
contig referenceGAsp [D]129
54224478311 rs1374674020 N.D. missenseCArg [R]128
contig referenceGGly [G]128
54224483306 rs1479175964 N.D. missenseTVal [V]226
contig referenceCAla [A]226
54224484305 rs1378702785 N.D. missenseTSer [S]126
contig referenceGAla [A]126
54224486303 rs1178332153 N.D. missenseAAsp [D]225
contig referenceGGly [G]225
54224496293 rs948964672 N.D. missenseASer [S]122
missenseTCys [C]122
contig referenceGGly [G]122
54224498290 rs1208073138 N.D. frame shiftGGly [G]121
contig reference-Ala [A]121
54224499290 rs1440664838 N.D. missenseAThr [T]121
contig referenceGAla [A]121
54224500289 rs1045056201 N.D. synonymousAAla [A]320
synonymousCAla [A]320
synonymousTAla [A]320
contig referenceGAla [A]320
54224501288 rs1477913004 N.D. missenseGGly [G]220
missenseTVal [V]220
contig referenceCAla [A]220
54224503286 rs928595690 N.D. synonymousCSer [S]319
contig referenceTSer [S]319
54224505284 rs558742126 0.001byFreqWith1000GenomeData0.0004 missenseCArg [R]119
contig referenceASer [S]119
54224506283 rs1377137351 N.D. missenseTAsp [D]318
synonymousAGlu [E]318
contig referenceGGlu [E]318
54224507282 rs1445108880 N.D. missenseGGly [G]218
contig referenceAGlu [E]218
54224508281 rs1172731770 N.D. frame shift-Arg [R]118
contig referenceGGlu [E]118
54224511276 rs1426908917 N.D. -216
54224512277 rs1340411664 N.D. synonymousAGlu [E]316
contig referenceGGlu [E]316
54224514275 rs972470003 N.D. nonsenseT116
contig referenceGGlu [E]116
54224520269 rs1398435700 N.D. missenseGGlu [E]114
contig referenceCGln [Q]114
54224522267 rs1286915571 N.D. missenseGGly [G]213
contig referenceAGlu [E]213
54224525264 rs754106347 0.009 missenseGArg [R]212
missenseTLeu [L]212
contig referenceCPro [P]212
54224529260 rs1359095710 N.D. missenseCArg [R]111
contig referenceTCys [C]111
54224534255 rs1361051511 N.D. missenseAHis [H]29
contig referenceGArg [R]29
54224536253 rs1401728036 N.D. synonymousAGly [G]38
contig referenceCGly [G]38
54224540249 rs1301242496 N.D. frame shift-Glu [E]27
contig referenceGGly [G]27
54224542247 rs1330244114 N.D. synonymousAGly [G]36
synonymousTGly [G]36
contig referenceGGly [G]36
54224543246 rs755053852 0.009 missenseAGlu [E]26
contig referenceGGly [G]26
54224544245 rs1206112863 N.D. missenseCArg [R]16
contig referenceGGly [G]16
54224545244 rs778818524 0.000byFreq synonymousAPro [P]35
synonymousTPro [P]35
contig referenceGPro [P]35
54224546243 rs1180220083 N.D. missenseTLeu [L]25
contig referenceCPro [P]25
54224550238 rs1347474382 N.D. frame shift-Pro [P]34
contig referenceGCHis [H]34
54224551238 rs1238029997 N.D. synonymousAAla [A]33
contig referenceGAla [A]33
54224553236 rs1285453240 N.D. missenseTSer [S]13
contig referenceGAla [A]13
54224556233 rs1488670477 N.D. missenseTCys [C]12
contig referenceCArg [R]12
54224557232 rs1472476958 N.D. missenseAIle [I]31
contig referenceGMet [M]31