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dbSNP

dbVar ClinVar GaP PubMed Nucleotide Protein
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SNP linked to Gene (geneID:7072) 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): 39
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_017004800.1minus strandXP_016860289.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
XM_017004799.1minus strandXP_016860288.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
XM_017004798.1minus strandXP_016860287.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
XM_017004797.1minus strandXP_016860286.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
XM_017004796.1minus strandXP_016860285.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
XM_017004795.1minus strandXP_016860284.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
XM_017004794.1minus strandXP_016860283.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
XM_017004793.1minus strandXP_016860282.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
XM_017004792.1minus strandXP_016860281.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
XM_017004791.1minus strandXP_016860280.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
XM_017004790.1minus strandXP_016860279.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
XM_017004789.1minus strandXP_016860278.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
XM_011533082.2minus strandXP_011531384.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
XM_011533081.2minus strandXP_011531383.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
XM_011533078.1minus strandXP_011531380.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
XM_011533077.1minus strandXP_011531379.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
XM_005264531.1minus strandXP_005264588.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
XM_005264528.4minus strandXP_005264585.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
XM_005264527.1minus strandXP_005264584.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
NM_022173.3minus strandNP_071505.2reverseNT_022184.16GRCh38.p7View snp on GeneModel
NM_022037.3minus strandNP_071320.2reverseNT_022184.16GRCh38.p7View snp on GeneModel
NM_001351525.1minus strandNP_001338454.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
NM_001351524.1minus strandNP_001338453.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
NM_001351523.1minus strandNP_001338452.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
NM_001351522.1minus strandNP_001338451.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
NM_001351521.1minus strandNP_001338450.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
NM_001351520.1minus strandNP_001338449.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
NM_001351519.1minus strandNP_001338448.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
NM_001351518.1minus strandNP_001338447.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
NM_001351517.1minus strandNP_001338446.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
NM_001351516.1minus strandNP_001338445.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
NM_001351515.1minus strandNP_001338444.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
NM_001351514.1minus strandNP_001338443.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
NM_001351513.1minus strandNP_001338442.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
NM_001351512.1minus strandNP_001338441.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
NM_001351511.1minus strandNP_001338440.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
NM_001351510.1minus strandNP_001338439.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
NM_001351509.1minus strandNP_001338438.1reverseNT_022184.16GRCh38.p7View snp on GeneModel
NM_001351508.1minus strandNP_001338437.1reverseNT_022184.16GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
XR_939715.2293, coding

Region Chr.
position
mRNA
pos
dbSNP rs#
cluster id
Hetero-
zygosity
Validation MAF Allele
origin
3D Linkout Function dbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
PubMed
702127231520 rs199700349 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseCPro [P]2386
contig referenceAGln [Q]2386
702127261517 rs777946206 0.000byFreq missenseAAsn [N]2385
contig referenceCThr [T]2385
702127301513 rs747068278 0.000byFreq missenseALys [K]1384
contig referenceGGlu [E]1384
702127321511 rs757277744 0.000 missenseGCys [C]2383
contig referenceATyr [Y]2383
702127331510 rs200542970 0.059byClusterbyFreq missenseGAsp [D]1383
contig referenceTTyr [Y]1383
702127341509 rs746021823 0.000 synonymousTGly [G]3382
contig referenceGGly [G]3382
702127391504 rs768554955 0.000 missenseAThr [T]1381
contig referenceGAla [A]1381
702127441499 rs774014016 0.000byFreq missenseAGln [Q]2379
contig referenceGArg [R]2379
702127451498 rs748157704 0.000byFreq nonsenseT1379
missenseGGly [G]1379
contig referenceCArg [R]1379
702127471496 rs773238298 0.000 missenseGCys [C]2378
contig referenceATyr [Y]2378
702127491494 rs760297134 0.000 synonymousTGly [G]3377
contig referenceGGly [G]3377
702127551488 rs765923218 0.000 synonymousCPro [P]3375
contig referenceTPro [P]3375
702127561487 rs534696291 0.000With1000GenomeData0.0002 missenseAHis [H]2375
contig referenceCPro [P]2375
702127571486 rs759094935 0.000 missenseGAla [A]1375
contig referenceCPro [P]1375
702127581485 rs76710635 0.002byClusterbyFreqWith1000GenomeData0.0046 synonymousAGln [Q]3374
contig referenceGGln [Q]3374
702127631480 rs1251696640 N.D. missenseCHis [H]1373
missenseGAsp [D]1373
contig referenceAAsn [N]1373
702127721471 rs752969561 0.000byFreq missenseGVal [V]1370
contig referenceAMet [M]1370
702127771466 rs999343044 N.D. missenseTVal [V]2368
contig referenceGGly [G]2368
702127791464 rs200990761 0.000byClusterbyFreqWith1000GenomeData0.0008 synonymousCAsn [N]3367
contig referenceTAsn [N]3367
702127821461 rs912146134 N.D. synonymousGGln [Q]3366
contig referenceAGln [Q]3366
702127841459 rs935618716 N.D. nonsenseT1366
contig referenceCGln [Q]1366
702127851458 rs1461358883 N.D. synonymousAGly [G]3365
contig referenceGGly [G]3365
702127891454 rs1184941873 N.D. missenseTLeu [L]2364
contig referenceAGln [Q]2364
702127941449 rs72902461 0.004byClusterbyFreqWith1000GenomeData0.0086 synonymousAPro [P]3362
contig referenceGPro [P]3362
702127941448 rs1439252271 N.D. frame shiftCAla [A]2363
contig reference-Pro [P]2363
702127951448 rs757332023 0.000byFreq missenseTLeu [L]2362
contig referenceCPro [P]2362
702127961447 rs1427575965 N.D. missenseTSer [S]1362
contig referenceCPro [P]1362
702127971446 rs781188920 0.000 synonymousGGln [Q]3361
contig referenceAGln [Q]3361
702127981445 rs556545503 0.000byFreqWith1000GenomeData0.0002 missenseCPro [P]2361
contig referenceAGln [Q]2361
702128011442 rs1468634852 N.D. missenseCAla [A]2360
contig referenceTVal [V]2360
702128021441 rs201905164 0.000byClusterbyFreq missenseAMet [M]1360
contig referenceGVal [V]1360
702128031440 rs778817360 0.000 synonymousCGly [G]3359
contig referenceAGly [G]3359
702128051437 rs772046624 0.000 (39bp)3359
702128081435 rs1454620536 N.D. missenseGAsp [D]1358
contig referenceTTyr [Y]1358
702128101433 rs116621885 0.014byClusterbyFreqWith1000GenomeData0.0016 missenseGSer [S]2357
contig referenceAAsn [N]2357
702128141429 rs771864817 0.000 missenseTSer [S]1356
contig referenceCPro [P]1356
702128171426 rs372889101 0.000byClusterbyFreq missenseAArg [R]1355
contig referenceGGly [G]1355
702128191424 rs746887914 0.000 missenseALys [K]2354
contig referenceTMet [M]2354
702128201423 rs1192660791 N.D. missenseGVal [V]1354
contig referenceAMet [M]1354
702128251418 rs1319719621 N.D. missenseTLeu [L]2352
contig referenceCPro [P]2352
702128371405 rs1474401416 N.D. frame shift-Val [V]1348
contig referenceCAGln [Q]1348
702128431400 rs974458784 N.D. missenseCPro [P]2346
contig referenceAGln [Q]2346
702143511395 rs1014286030 N.D. synonymousCPhe [F]3344
contig referenceTPhe [F]3344
702143521394 rs1453824248 N.D. missenseATyr [Y]2344
contig referenceTPhe [F]2344
702143551391 rs1489739740 N.D. missenseAGlu [E]2343
contig referenceGGly [G]2343
702143561390 rs1409033743 N.D. missenseAArg [R]1343
contig referenceGGly [G]1343
702143621384 rs1804521 N.D. missenseALys [K]1341
contig referenceCGln [Q]1341
702143681378 rs112291477 0.500 missenseCArg [R]1339
contig referenceTTrp [W]1339
702143711375 rs1329874789 N.D. missenseTSer [S]1338
contig referenceGAla [A]1338
702143751371 rs1270069562 N.D. synonymousTGly [G]3336
contig referenceCGly [G]3336
702143771369 rs200963371 0.000byClusterbyFreq missenseASer [S]1336
contig referenceGGly [G]1336
702143811365 rs747006488 0.000 missenseAIle [I]3334
contig referenceGMet [M]3334
702143871359 rs1169680091 N.D. synonymousCTyr [Y]3332
contig referenceTTyr [Y]3332
702143901356 rs770958128 0.000 synonymousGAla [A]3331
contig referenceAAla [A]3331
702143921354 rs797002530 N.D.byCluster missenseAThr [T]1331
contig referenceGAla [A]1331
702143981348 rs780894412 0.000 missenseAIle [I]1329
contig referenceGVal [V]1329
702144021344 rs1363888895 N.D. nonsenseA3327
contig referenceGTrp [W]3327
702144051341 rs78236170 0.002byClusterbyFreqWith1000GenomeData0.0042 synonymousAGly [G]3326
synonymousCGly [G]3326
contig referenceTGly [G]3326
702144121334 rs767406040 N.D. missenseGArg [R]2324
contig referenceCPro [P]2324
702144161330 rs1365954613 N.D. missenseGVal [V]1323
contig referenceAMet [M]1323
702144181328 rs1368054508 N.D. missenseGCys [C]2322
contig referenceATyr [Y]2322
702144211325 rs1438421677 N.D. missenseCPro [P]2321
contig referenceAGln [Q]2321
702144231323 rs1277683394 N.D. synonymousGGly [G]3320
contig referenceCGly [G]3320
702144241322 rs1184032037 N.D. missenseTVal [V]2320
contig referenceGGly [G]2320
702144291315 rs772973829 0.000 -1318
702144301316 rs115611153 0.013byClusterbyFreqWith1000GenomeData0.0028 missenseGArg [R]2318
contig referenceAGln [Q]2318
702144311315 rs762607527 0.000 missenseGGlu [E]1318
contig referenceCGln [Q]1318
702144321314 rs1236324874 N.D. synonymousGGln [Q]3317
contig referenceAGln [Q]3317
702144351311 rs373531585 N.D. synonymousGAla [A]3316
contig referenceAAla [A]3316
702144361310 rs116828570 0.004byClusterbyFreqWith1000GenomeData0.0068 missenseGGly [G]2316
missenseTVal [V]2316
contig referenceCAla [A]2316
702144441302 rs954154843 N.D. synonymousCTyr [Y]3313
contig referenceTTyr [Y]3313
702144471291 rs762762686 0.000 -1310
702144501296 rs1292138113 N.D. missenseCHis [H]3311
contig referenceGGln [Q]3311
702144541292 rs1453661692 N.D. missenseAAsp [D]2310
contig referenceGGly [G]2310
702144551291 rs774668067 0.000 missenseASer [S]1310
contig referenceGGly [G]1310
702144591287 rs79075815 0.003byClusterbyFreqWith1000GenomeData0.0042 synonymousAGln [Q]3308
contig referenceGGln [Q]3308
702144651281 rs373992720 0.000byClusterbyFreq synonymousCTyr [Y]3306
contig referenceTTyr [Y]3306
702144811265 rs1180520068 N.D. missenseCAla [A]2301
contig referenceGGly [G]2301
702144841262 rs1355281868 N.D. missenseCThr [T]2300
contig referenceTIle [I]2300
702144941252 rs750903310 0.000byFreq missenseGGlu [E]1297
contig referenceCGln [Q]1297
702153781244 rs769199100 0.000 missenseAGlu [E]2294
contig referenceTVal [V]2294
702153791243 rs144296151 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAMet [M]1294
missenseCLeu [L]1294
missenseTLeu [L]1294
contig referenceGVal [V]1294
702153801242 rs768275814 0.000 synonymousTPro [P]3293
contig referenceCPro [P]3293
702153841238 rs1397537724 N.D. missenseGSer [S]2292
contig referenceAAsn [N]2292
702153851237 rs1169854298 N.D. missenseGAsp [D]1292
contig referenceAAsn [N]1292
702153901232 rs116707801 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseCThr [T]2290
contig referenceTMet [M]2290
702153971225 rs143048026 0.000byClusterbyFreq missenseAIle [I]1288
missenseGVal [V]1288
contig referenceCLeu [L]1288
702154001222 rs1384415173 N.D. missenseGAla [A]1287
contig referenceAThr [T]1287
702154141208 rs773608862 0.000 missenseGCys [C]2282
contig referenceATyr [Y]2282
702154221200 rs1276906285 N.D. synonymousAVal [V]3279
contig referenceGVal [V]3279
702154341188 rs113583680 0.500 synonymousGGlu [E]3275
contig referenceAGlu [E]3275
702154381184 rs994113365 N.D. missenseCThr [T]2274
contig referenceTIle [I]2274
702154391183 rs539059746 0.000With1000GenomeData0.0002 missenseGVal [V]1274
contig referenceAIle [I]1274
702154421180 rs1451225199 N.D. missenseGAla [A]1273
contig referenceAThr [T]1273
702154461176 rs1334267989 N.D. synonymousAGly [G]3271
contig referenceTGly [G]3271
702154601161 rs754454250 0.000 frame shiftTCys [C]3267
contig reference-Val [V]3267
702154631159 rs766439734 0.000byFreq missenseGVal [V]1266
contig referenceAIle [I]1266
702154651157 rs776737972 0.000 missenseGGly [G]2265
contig referenceCAla [A]2265
702154771145 rs1363072827 N.D. missenseAAsn [N]2261
contig referenceGSer [S]2261
702154841138 rs1220895242 N.D. frame shift-Met [M]1259
contig referenceCHis [H]1259
702154851137 rs1209826497 N.D. synonymousTSer [S]3258
contig referenceCSer [S]3258
702154861136 rs1219834476 N.D. missenseATyr [Y]2258
contig referenceCSer [S]2258
702154891133 rs765028674 0.000byFreq missenseTIle [I]2257
contig referenceAAsn [N]2257
702162081127 rs1345373890 N.D. missenseAGln [Q]2255
missenseCPro [P]2255
contig referenceGArg [R]2255
702162091126 rs1224666937 N.D. missenseTTrp [W]1255
synonymousAArg [R]1255
contig referenceCArg [R]1255
702162141121 rs1336235942 N.D. missenseATyr [Y]2253
contig referenceTPhe [F]2253
702162201115 rs1277186814 N.D. missenseGCys [C]2251
contig referenceATyr [Y]2251
702162251110 rs1348612919 N.D. missenseCAsn [N]3249
contig referenceALys [K]3249
702162291106 rs764974057 N.D. missenseTVal [V]2248
contig referenceAAsp [D]2248
702162301105 rs747514623 0.000 missenseAAsn [N]1248
contig referenceGAsp [D]1248
702162341101 rs567115305 0.000byFreqWith1000GenomeData0.0002 synonymousCPhe [F]3246
contig referenceTPhe [F]3246
702162411094 rs777224522 0.000 missenseAGln [Q]2244
contig referenceGArg [R]2244
702162441091 rs1218443832 N.D. missenseCThr [T]2243
contig referenceTIle [I]2243
702162461089 rs759717851 0.000 missenseTAsp [D]3242
contig referenceAGlu [E]3242
702162671068 rs765339727 0.000 synonymousGSer [S]3235
contig referenceASer [S]3235
702162741061 rs1199470752 N.D. missenseGSer [S]2233
contig referenceCThr [T]2233
702162801055 rs1379346485 N.D. missenseAHis [H]2231
contig referenceGArg [R]2231
702162811054 rs752346516 0.000byFreq missenseASer [S]1231
contig referenceCArg [R]1231
702162821053 rs939368858 N.D. missenseAIle [I]3230
contig referenceGMet [M]3230
702162891046 rs763253859 0.000byFreq missenseGArg [R]2228
missenseTLeu [L]2228
contig referenceAGln [Q]2228
702164051041 rs1458707805 N.D. synonymousGThr [T]3226
contig referenceAThr [T]3226
702164091037 rs746317592 0.000 missenseCPro [P]2225
contig referenceTLeu [L]2225
702164181028 rs1394892029 N.D. missenseGSer [S]2222
missenseTIle [I]2222
contig referenceCThr [T]2222
702164231023 rs1391326351 N.D. synonymousCGly [G]3220
contig referenceTGly [G]3220
702164241022 rs1332707387 N.D. missenseAAsp [D]2220
missenseTVal [V]2220
contig referenceGGly [G]2220
702164291017 rs1379186021 N.D. synonymousCCys [C]3218
contig referenceTCys [C]3218
702164351011 rs1450599332 N.D. synonymousGVal [V]3216
contig referenceAVal [V]3216
702164411005 rs1314589532 N.D. synonymousCCys [C]3214
contig referenceTCys [C]3214
702164431003 rs770054620 0.000 missenseGGly [G]1214
contig referenceTCys [C]1214
70216449997 rs775706428 0.000 missenseGGly [G]1212
contig referenceASer [S]1212
70216450996 rs763124338 0.000byFreq synonymousGPro [P]3211
contig referenceAPro [P]3211
70216467979 rs147215901 0.000byCluster missenseTLeu [L]1206
contig referenceGVal [V]1206
70216468978 rs774396205 0.000 synonymousGVal [V]3205
contig referenceTVal [V]3205
70216470976 rs760525486 0.000 missenseAIle [I]1205
contig referenceGVal [V]1205
70216483963 rs766031141 0.000 synonymousGLeu [L]3200
contig referenceALeu [L]3200
70216485961 rs1256469496 N.D. synonymousTLeu [L]1200
contig referenceCLeu [L]1200
70216486960 rs202123982 0.000byClusterWith1000GenomeData0.0002 YessynonymousAGln [Q]3199
contig referenceGGln [Q]3199
70216488958 rs1181262355 N.D. nonsenseT1199
contig referenceCGln [Q]1199
70216494952 rs1443782433 N.D. missenseTSer [S]1197
contig referenceAThr [T]1197
70216497949 rs753833525 0.000 missenseGAsp [D]1196
contig referenceAAsn [N]1196
70216890942 rs1211665479 N.D. synonymousCTyr [Y]3193
contig referenceTTyr [Y]3193
70216893939 rs1311234475 N.D. synonymousTThr [T]3192
contig referenceAThr [T]3192
70216903929 rs751282036 0.000 missenseTLeu [L]2189
contig referenceCPro [P]2189
70216907925 rs756853891 0.000byFreq missenseAThr [T]1188
contig referenceGAla [A]1188
70216908924 rs533863358 0.000byFreqWith1000GenomeData0.0002 synonymousTPro [P]3187
contig referenceCPro [P]3187
70216910922 rs1290800782 N.D. missenseTSer [S]1187
contig referenceCPro [P]1187
70216918914 rs1334471258 N.D. missenseAGln [Q]2184
contig referenceGArg [R]2184
70216919913 rs1265803384 N.D. missenseGGly [G]1184
contig referenceCArg [R]1184
70216922910 rs750794058 0.000 missenseGAla [A]1183
contig referenceAThr [T]1183
70216932900 rs756507988 0.000 synonymousAThr [T]3179
contig referenceTThr [T]3179
70216947885 rs1426546805 N.D. synonymousGGly [G]3174
contig referenceAGly [G]3174
70216952880 rs780710674 0.000byFreq missenseTCys [C]1173
contig referenceGGly [G]1173
70216957875 rs1157053717 N.D. nonsenseA2171
contig referenceGTrp [W]2171
70216960872 rs749702797 0.000byCluster missenseGArg [R]2170
contig referenceAGln [Q]2170
70216963869 rs1420542082 N.D. missenseAAsp [D]2169
contig referenceGGly [G]2169
70216965867 rs768840712 0.000 synonymousCGly [G]3168
contig referenceTGly [G]3168
70216970862 rs1362204431 N.D. missenseCLeu [L]1167
contig referenceAMet [M]1167
70216974858 rs778857593 0.000byFreq synonymousGGln [Q]3165
contig referenceAGln [Q]3165
70216982850 rs139154867 0.000byCluster YesmissenseAThr [T]1163
missenseTSer [S]1163
contig referenceGAla [A]1163
70216983849 rs772264529 0.000byFreq synonymousTAsn [N]3162
contig referenceCAsn [N]3162
70216990842 rs1256940282 N.D. missenseTVal [V]2160
contig referenceCAla [A]2160
70216991841 rs376126099 0.000byClusterbyFreq YesmissenseTSer [S]1160
contig referenceGAla [A]1160
70224555836 rs1381766475 N.D. missenseTLeu [L]2158
contig referenceGTrp [W]2158
70224558833 rs1213219472 N.D. missenseGArg [R]2157
missenseTIle [I]2157
contig referenceALys [K]2157
70224573818 rs754133747 0.000 missenseCAla [A]2152
contig referenceTVal [V]2152
70224582809 rs1379396633 N.D. missenseGCys [C]2149
contig referenceATyr [Y]2149
70224584807 rs1319238713 N.D. synonymousCGly [G]3148
contig referenceAGly [G]3148
70224585806 rs1200540437 N.D. missenseCAla [A]2148
contig referenceGGly [G]2148
70224593795 rs1261339778 N.D. frame shift-Leu [L]3145
contig referenceAAAGLys [K]3145
70224593798 rs1441986525 N.D. synonymousALys [K]3145
contig referenceGLys [K]3145
70224598793 rs755325262 0.000 missenseAArg [R]1144
contig referenceGGly [G]1144
70224599792 rs765698000 0.000 synonymousGThr [T]3143
contig referenceAThr [T]3143
70224603788 rs372738231 0.000byCluster YesmissenseTVal [V]2142
contig referenceCAla [A]2142
70224604787 rs1191276916 N.D. missenseAThr [T]1142
contig referenceGAla [A]1142
70224613778 rs1464084617 N.D. missenseGGlu [E]1139
contig referenceALys [K]1139
70224621770 rs753132138 0.000 missenseAGln [Q]2136
contig referenceGArg [R]2136
70224623768 rs758482149 0.000byFreq synonymousAAla [A]3135
contig referenceCAla [A]3135
70227735761 rs375191972 0.000byCluster YesnonsenseA2133
missenseTLeu [L]2133
contig referenceCSer [S]2133
70227743753 rs754788083 0.000 synonymousCGly [G]3130
contig referenceAGly [G]3130
70227749747 rs778848447 0.000byFreq synonymousGPro [P]3128
contig referenceAPro [P]3128
70227756740 rs748138782 0.000 missenseGCys [C]2126
contig referenceTPhe [F]2126
70227768728 rs1387866858 N.D. missenseCThr [T]2122
contig referenceTIle [I]2122
70227769727 rs981194878 N.D. missenseTLeu [L]1122
contig referenceAIle [I]1122
70227770726 rs144962426 0.000byCluster YessynonymousCAsp [D]3121
contig referenceTAsp [D]3121
70227771725 rs1206770691 N.D. missenseGGly [G]2121
contig referenceAAsp [D]2121
70227773723 rs1478623811 N.D. synonymousGGlu [E]3120
contig referenceAGlu [E]3120
70227777719 rs369169848 0.000byCluster YesmissenseAAsn [N]2119
contig referenceCThr [T]2119
70227784712 rs746552645 0.000byFreq missenseGVal [V]1117
contig referenceAIle [I]1117
70227791705 rs1446182567 N.D. synonymousTSer [S]3114
contig referenceCSer [S]3114
70227794702 rs1310209475 N.D. synonymousTLeu [L]3113
contig referenceCLeu [L]3113
70227795701 rs918598537 N.D. missenseCPro [P]2113
contig referenceTLeu [L]2113
70227804692 rs770411857 0.000 missenseCAla [A]2110
contig referenceTVal [V]2110
70227805691 rs776157438 0.000 missenseAIle [I]1110
contig referenceGVal [V]1110
70227812684 rs759209695 0.000byFreq synonymousCHis [H]3107
contig referenceTHis [H]3107
70227815681 rs770120862 0.000 synonymousTPhe [F]3106
contig referenceCPhe [F]3106
70227820676 rs775798661 0.000byFreq missenseAAsn [N]1105
missenseGAsp [D]1105
missenseTTyr [Y]1105
contig referenceCHis [H]1105
70227822674 rs143209672 0.000byCluster missenseTVal [V]2104
contig referenceAAsp [D]2104
70229067665 rs371200431 0.000byClusterbyFreq missenseAHis [H]2101
contig referenceGArg [R]2101
70229068664 rs768942529 0.000 missenseTCys [C]1101
contig referenceCArg [R]1101
70229074658 rs774896873 0.000 missenseCPro [P]199
contig referenceAThr [T]199
70229081651 rs762378716 0.000 synonymousCVal [V]396
contig referenceTVal [V]396
70229083646 rs1347734646 N.D. frame shift-Leu [L]195
contig referenceACCGThr [T]195
70229084648 rs768973137 N.D. synonymousTThr [T]395
contig referenceCThr [T]395
70229086646 rs767534980 0.000byFreq missenseTSer [S]195
contig referenceAThr [T]195
70229089643 rs773321500 0.000 missenseGGly [G]194
contig referenceASer [S]194
70229264640 rs1490560334 N.D. missenseGGly [G]193
contig referenceASer [S]193
70229266638 rs777054975 0.000 missenseAAsn [N]292
contig referenceGSer [S]292
70229269635 rs1306434191 N.D. missenseGArg [R]291
contig referenceCThr [T]291
70229274630 rs1176891179 N.D. missenseCAsn [N]389
contig referenceALys [K]389
70229277627 rs759837164 0.000 synonymousALys [K]388
contig referenceGLys [K]388
70229281623 rs1014126810 N.D. missenseGArg [R]287
contig referenceAGln [Q]287
70229287617 rs1487955247 N.D. missenseAAsn [N]285
contig referenceGSer [S]285
70229288616 rs1440553110 N.D. missenseTCys [C]185
contig referenceASer [S]185
70229290614 rs764023417 0.000 missenseTLeu [L]284
contig referenceCPro [P]284
70229296608 rs751349454 0.000byFreq missenseTIle [I]282
contig referenceCThr [T]282
70229297607 rs756955951 0.000 missenseGAla [A]182
contig referenceAThr [T]182
70229311593 rs767523891 0.000 missenseGArg [R]277
contig referenceALys [K]277
70229313591 rs1350429063 N.D. synonymousTVal [V]376
contig referenceCVal [V]376
70229315589 rs537517078 0.000With1000GenomeData0.0002 missenseAIle [I]176
contig referenceGVal [V]176
70229316588 rs1328705771 N.D. synonymousGGlu [E]375
contig referenceAGlu [E]375
70230756585 rs761674200 0.000 synonymousALys [K]374
contig referenceGLys [K]374
70230761580 rs767160605 0.000 missenseCArg [R]173
contig referenceGGly [G]173
70230762579 rs1318660224 N.D. missenseTIle [I]372
contig referenceGMet [M]372
70230763578 rs986747723 N.D. missenseCThr [T]272
contig referenceTMet [M]272
70230772569 rs1165533423 N.D. missenseAGln [Q]269
contig referenceGArg [R]269
70230773568 rs568284639 0.000byCluster missenseTTrp [W]169
synonymousAArg [R]169
contig referenceCArg [R]169
70230779562 rs1276705856 N.D. missenseCHis [H]167
contig referenceAAsn [N]167
70230781560 rs1359562995 N.D. missenseCThr [T]266
contig referenceTMet [M]266
70230782559 rs760573990 0.000byFreq missenseCLeu [L]166
missenseGVal [V]166
missenseTLeu [L]166
contig referenceAMet [M]166
70230787554 rs963457764 N.D. missenseTVal [V]264
contig referenceCAla [A]264
70230791550 rs374166300 0.000byClusterbyFreq synonymousCLeu [L]163
contig referenceTLeu [L]163
70230794547 rs1221755597 N.D. missenseAThr [T]162
contig referenceGAla [A]162
70230798543 rs1257962865 N.D. synonymousAAla [A]360
contig referenceTAla [A]360
70230799542 rs753367632 0.000 missenseTVal [V]260
contig referenceCAla [A]260
70230804537 rs1191390967 N.D. synonymousCHis [H]358
contig referenceTHis [H]358
70230805536 rs754441686 0.000 missenseGArg [R]258
contig referenceAHis [H]258
70230806535 rs1422884714 N.D. missenseAAsn [N]158
contig referenceCHis [H]158
70230808533 rs778629190 0.000byFreq missenseAHis [H]257
contig referenceGArg [R]257
70230809532 rs752229896 0.000 missenseTCys [C]157
contig referenceCArg [R]157
70230811530 rs1352651621 N.D. missenseGArg [R]256
contig referenceAHis [H]256
70230816525 rs758851784 0.000 synonymousCHis [H]354
contig referenceTHis [H]354
70230817524 rs1413549089 N.D. missenseGArg [R]254
contig referenceAHis [H]254
70230819522 rs1173937633 N.D. missenseGLeu [L]353
contig referenceTPhe [F]353
70230822519 rs778000483 0.000byFreq synonymousAGlu [E]352
contig referenceGGlu [E]352
70230824517 rs183810707 0.000byClusterWith1000GenomeData0.0004 missenseALys [K]152
contig referenceGGlu [E]152
70230835506 rs370430518 0.000byClusterbyFreq missenseGCys [C]248
contig referenceATyr [Y]248
70230837504 rs1327550207 N.D. synonymousAPro [P]347
contig referenceCPro [P]347
70230841500 rs1424536298 N.D. missenseGGly [G]246
contig referenceAAsp [D]246
70230849492 rs781747532 0.000byFreq synonymousAAla [A]343
contig referenceTAla [A]343
70230851490 rs1273159918 N.D. missenseTSer [S]143
contig referenceGAla [A]143
70230853488 rs1389851413 N.D. missenseTIle [I]242
contig referenceCThr [T]242
70236082483 rs1222594126 N.D. missenseAIle [I]340
contig referenceGMet [M]340
70236085480 rs140693539 0.000 synonymousAIle [I]339
contig referenceTIle [I]339
70236088477 rs757658310 0.000 missenseTIle [I]338
contig referenceGMet [M]338
70236096469 rs763470344 N.D. missenseCArg [R]136
contig referenceTCys [C]136
70236104461 rs1360797921 N.D. missenseATyr [Y]233
contig referenceGCys [C]233
70236109456 rs560119254 0.000byFreqWith1000GenomeData0.0004 synonymousGGly [G]331
contig referenceAGly [G]331
70236115450 rs1294572053 N.D. missenseTHis [H]329
contig referenceGGln [Q]329
70236121444 rs374997553 0.000byClusterbyFreq synonymousCPhe [F]327
contig referenceTPhe [F]327
70236122443 rs1336287472 N.D. missenseGCys [C]227
contig referenceTPhe [F]227
70236127438 rs114952383 0.000byClusterbyFreqWith1000GenomeData0.0010 synonymousGGln [Q]325
contig referenceAGln [Q]325
70236132433 rs1254426258 N.D. synonymousTLeu [L]124
contig referenceCLeu [L]124
70236134431 rs1437437696 N.D. missenseCThr [T]223
contig referenceTIle [I]223
70236135430 rs1232607387 N.D. missenseGVal [V]123
contig referenceAIle [I]123
70236138427 rs1302550584 N.D. missenseGVal [V]122
contig referenceCLeu [L]122
70236141424 rs1268641356 N.D. missenseAThr [T]121
contig referenceGAla [A]121
70236143422 rs779993617 0.000 missenseGGly [G]220
contig referenceAGlu [E]220
70236146419 rs1364728032 N.D. missenseTIle [I]219
contig referenceCThr [T]219
70236148417 rs368195694 0.000byCluster synonymousCVal [V]318
contig referenceGVal [V]318
70236154411 rs115062005 0.000byClusterbyFreqWith1000GenomeData0.0008 synonymousGArg [R]316
contig referenceAArg [R]316
70236157408 rs774514562 0.000 synonymousTSer [S]315
contig referenceCSer [S]315
70236160405 rs139181563 0.000byClusterbyFreq synonymousCLeu [L]314
contig referenceTLeu [L]314
70236162403 rs1328025172 N.D. missenseGVal [V]114
contig referenceCLeu [L]114
70236168397 rs1398300627 N.D. missenseASer [S]112
contig referenceGGly [G]112
70236169396 rs761527779 0.000byFreq synonymousGVal [V]311
synonymousTVal [V]311
contig referenceCVal [V]311
70236171394 rs199622537 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAIle [I]111
missenseCLeu [L]111
contig referenceGVal [V]111
70236172393 rs532963050 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTTyr [Y]310
contig referenceCTyr [Y]310
70236175390 rs774844467 0.000 synonymousGLeu [L]39
contig referenceALeu [L]39
70248405388 rs758833294 0.000 frame shift-Ile [I]19
contig referenceCTLeu [L]19
70248408386 rs1413574772 N.D. missenseGSer [S]28
missenseTIle [I]28
contig referenceCThr [T]28
70248410384 rs778955345 0.000 missenseTAsn [N]37
synonymousALys [K]37
contig referenceGLys [K]37
70248413381 rs1020288909 N.D. synonymousGPro [P]36
synonymousTPro [P]36
contig referenceCPro [P]36
70248416378 rs1213492672 N.D. missenseCIle [I]35
missenseTIle [I]35
contig referenceGMet [M]35
70248417377 rs752954208 0.000 missenseCThr [T]25
contig referenceTMet [M]25
70248419375 rs758601395 0.000 missenseCAsp [D]34
contig referenceGGlu [E]34
70248420374 rs1418859095 N.D. missenseTVal [V]24
contig referenceAGlu [E]24
70248421373 rs1485829059 N.D. missenseALys [K]14
contig referenceGGlu [E]14
70248422372 rs1187683988 N.D. missenseGGlu [E]33
contig referenceCAsp [D]33
70248424370 rs777926752 0.000byFreq missenseAAsn [N]13
contig referenceGAsp [D]13
70248425369 rs1380741550 N.D. synonymousAGlu [E]32
contig referenceGGlu [E]32
70248427367 rs1007481016 N.D. missenseALys [K]12
contig referenceGGlu [E]12
70248429365 rs745683994 0.000 missenseCThr [T]21
missenseGArg [R]21
contig referenceTMet [M]21