NCBI
dbSNP

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:204) 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): 9
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_013411.3minus strandNP_037543.1reverseNT_032977.10GRCh38.p7<- currently shown
NM_013411.4minus strandNP_037543.1reverseNT_032977.10GRCh38.p7View snp on GeneModel
NM_001625.3minus strandNP_001616.1reverseNT_032977.10GRCh38.p7View snp on GeneModel
NM_001319143.1minus strandNP_001306072.1reverseNT_032977.10GRCh38.p7View snp on GeneModel
NM_001319142.1minus strandNP_001306071.1reverseNT_032977.10GRCh38.p7View snp on GeneModel
NM_001319141.1minus strandNP_001306070.1reverseNT_032977.10GRCh38.p7View snp on GeneModel
NM_001319140.1minus strandNP_001306069.1reverseNT_032977.10GRCh38.p7View snp on GeneModel
NM_001319139.1minus strandNP_001306068.1reverseNT_032977.10GRCh38.p7View snp on GeneModel
NM_001199199.1minus strandNP_001186128.1reverseNT_032977.10GRCh38.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_032977.10NM_013411.3NP_037543.1reverseminus strand277, 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
33010829762 rs750592776 0.000byFreq TTyr [Y]3233
contig referenceG3233
33010830760 rs767742838 0.003byFreq (18bp) [FSKATS]1232
33010831759 rs752889879 0.002byFreq ACATCC [TS]3232
33010832758 rs756443237 0.001byFreq frame shift(29bp)Pro [P]2233
(21bp) [cds-indel]2232
(33bp) [cds-indel]2232
contig reference-2233
33010833758 rs549550136 0.001byFreqWith1000GenomeData0.0004 missenseTPhe [F]2232
contig referenceCSer [S]2232
33013208756 rs749644551 0.000 synonymousGThr [T]3231
contig referenceAThr [T]3231
33013210754 rs1294739871 N.D. missenseGAla [A]1231
contig referenceAThr [T]1231
33013218746 rs771479963 0.000byFreq missenseATyr [Y]2228
missenseTPhe [F]2228
contig referenceCSer [S]2228
33013220744 rs1217458592 N.D. synonymousTPhe [F]3227
contig referenceCPhe [F]3227
33013221743 rs1258180948 N.D. missenseCSer [S]2227
missenseGCys [C]2227
contig referenceTPhe [F]2227
33013225739 rs150586421 0.000byClusterbyFreq YesmissenseAThr [T]1226
contig referenceGAla [A]1226
33013226738 rs1198093746 N.D. synonymousGAla [A]3225
contig referenceAAla [A]3225
33013227737 rs1804813 N.D. YesmissenseTVal [V]2225
contig referenceCAla [A]2225
33013231733 rs771562640 0.000byFreq missenseGVal [V]1224
contig referenceCLeu [L]1224
33013232732 rs775008284 0.000 synonymousAIle [I]3223
contig referenceCIle [I]3223
33013233731 rs758305242 0.001byClusterbyFreq missenseCThr [T]2223
contig referenceTIle [I]2223
33013236728 rs933792503 N.D. missenseAAsn [N]2222
contig referenceGSer [S]2222
33013237727 rs1259851576 N.D. missenseGGly [G]1222
contig referenceASer [S]1222
33013240724 rs201817938 0.000byClusterbyFreq YesmissenseAThr [T]1221
contig referenceGAla [A]1221
33013241723 rs566166581 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousTPhe [F]3220
contig referenceCPhe [F]3220
33013245717 rs777356440 0.000 -3219
33013246718 rs755736918 0.000byFreq missenseAMet [M]1219
contig referenceGVal [V]1219
33013247717 rs765292604 0.000byFreq synonymousGVal [V]3218
synonymousTVal [V]3218
contig referenceCVal [V]3218
33013249715 rs750334205 0.000 missenseTPhe [F]1218
contig referenceGVal [V]1218
33013251713 rs759545237 0.000 missenseGGly [G]2217
contig referenceAAsp [D]2217
33013252712 rs185081372 0.000byClusterWith1000GenomeData0.0002 YesmissenseAAsn [N]1217
contig referenceGAsp [D]1217
33013253711 rs201622956 0.004byClusterbyFreq YessynonymousGPro [P]3216
synonymousTPro [P]3216
contig referenceCPro [P]3216
33013259705 rs149659319 0.002byClusterbyFreqWith1000GenomeData0.0002 YessynonymousAGln [Q]3214
contig referenceGGln [Q]3214
33013263701 rs139238739 0.000byClusterbyFreq YesmissenseATyr [Y]2213
contig referenceCSer [S]2213
33013265699 rs1357559478 N.D. synonymousGAla [A]3212
contig referenceAAla [A]3212
33013268696 rs757578036 0.000 synonymousCAsp [D]3211
contig referenceTAsp [D]3211
33013270694 rs143825456 0.001byClusterbyFreq YesmissenseAAsn [N]1211
contig referenceGAsp [D]1211
33013271693 rs746330303 0.009byFreq missenseGMet [M]3210
synonymousTIle [I]3210
contig referenceCIle [I]3210
33013273691 rs779671947 0.000 missenseGVal [V]1210
missenseTPhe [F]1210
contig referenceAIle [I]1210
33013277687 rs779366586 0.009byFreq synonymousTSer [S]3208
contig referenceCSer [S]3208
33013279685 rs776378314 0.000 missenseGAla [A]1208
contig referenceTSer [S]1208
33013280684 rs747975262 0.000 synonymousTHis [H]3207
contig referenceCHis [H]3207
33013286677 rs746465070 0.000byCluster frame shift-Asp [D]2205
contig referenceGGGly [G]2205
33013286678 rs769651837 0.000 synonymousCGly [G]3205
contig referenceGGly [G]3205
33013287677 rs202182972 0.010byClusterbyFreq YesmissenseAGlu [E]2205
contig referenceGGly [G]2205
33013289675 rs143139042 0.000byClusterbyFreq YessynonymousAArg [R]3204
contig referenceGArg [R]3204
33013290674 rs200179721 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAGln [Q]2204
contig referenceGArg [R]2204
33013291673 rs370429097 0.000byClusterbyFreq YesmissenseTTrp [W]1204
contig referenceCArg [R]1204
33013294670 rs558711409 0.000With1000GenomeData0.0002 missenseCGln [Q]1203
contig referenceALys [K]1203
33013295669 rs1378268087 N.D. synonymousAArg [R]3202
contig referenceGArg [R]3202
33013298666 rs138151595 0.001byClusterbyFreqWith1000GenomeData0.0004 YessynonymousTTyr [Y]3201
contig referenceCTyr [Y]3201
33013299665 rs113711467 0.019byClusterbyFreq YesmissenseTPhe [F]2201
contig referenceATyr [Y]2201
33013303661 rs754012236 0.000 missenseCHis [H]1200
contig referenceTTyr [Y]1200
33013304660 rs150186080 0.001byClusterbyFreqWith1000GenomeData0.0016 YesmissenseCAsp [D]3199
synonymousAGlu [E]3199
contig referenceGGlu [E]3199
33013305659 rs1322333479 N.D. missenseGGly [G]2199
contig referenceAGlu [E]2199
33013308656 rs1235671386 N.D. missenseGArg [R]2198
contig referenceTIle [I]2198
33013308656 rs1370858635 N.D. frame shift-Lys [K]2198
contig referenceTIle [I]2198
33013313651 rs1306006347 N.D. synonymousGPro [P]3196
contig referenceAPro [P]3196
33013319645 rs111261425 0.228byFreq YessynonymousTThr [T]3194
contig referenceCThr [T]3194
33013326638 rs1327622268 N.D. missenseTIle [I]2192
contig referenceCThr [T]2192
33013327637 rs750738453 0.000 missenseGAla [A]1192
contig referenceAThr [T]1192
33013329635 rs374136644 0.000byCluster YesmissenseGArg [R]2191
contig referenceAHis [H]2191
33013330634 rs80324279 0.449byClusterbyFreqWith1000GenomeData YesmissenseGAsp [D]1191
missenseTTyr [Y]1191
contig referenceCHis [H]1191
33013336628 rs368289891 0.000byCluster YesmissenseAThr [T]1189
contig referenceGAla [A]1189
33013337627 rs746557084 0.000 synonymousGGln [Q]3188
contig referenceAGln [Q]3188
33013341623 rs751151897 N.D. missenseGArg [R]2187
contig referenceTLeu [L]2187
33013344620 rs754485826 0.000byFreq missenseAHis [H]2186
contig referenceGArg [R]2186
33013346618 rs747733719 0.000byFreq synonymousTIle [I]3185
contig referenceCIle [I]3185
33013355609 rs1204705035 N.D. synonymousGAla [A]3182
contig referenceCAla [A]3182
33013356608 rs559947967 0.000With1000GenomeData0.0002 missenseAAsp [D]2182
contig referenceCAla [A]2182
33013358606 rs72884305 0.483byClusterbyFreqWith1000GenomeData YesmissenseCAsn [N]3181
contig referenceGLys [K]3181
33013359605 rs1159633756 N.D. missenseGArg [R]2181
contig referenceALys [K]2181
33013362602 rs748704212 N.D. missenseTVal [V]2180
contig referenceAGlu [E]2180
33013363601 rs773203116 0.000 missenseALys [K]1180
contig referenceGGlu [E]1180
33013364600 rs199795886 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousCAsn [N]3179
contig referenceTAsn [N]3179
33013366598 rs1162053601 N.D. missenseGAsp [D]1179
contig referenceAAsn [N]1179
33013367597 rs770945383 0.000 synonymousCAsp [D]3178
contig referenceTAsp [D]3178
33013368596 rs774116112 0.000byFreq missenseTVal [V]2178
contig referenceAAsp [D]2178
33013369595 rs1000645415 N.D. missenseAAsn [N]1178
contig referenceGAsp [D]1178
33013377587 rs1243124080 N.D. missenseAGln [Q]2175
contig referenceGArg [R]2175
33013378586 rs1375379850 N.D. nonsenseT1175
contig referenceCArg [R]1175
33013380584 rs760832831 0.000 missenseAHis [H]2174
contig referenceGArg [R]2174
33013381583 rs764104016 0.000 missenseTCys [C]1174
contig referenceCArg [R]1174
33013382582 rs79403800 0.470byClusterbyFreqWith1000GenomeData YessynonymousTIle [I]3173
contig referenceCIle [I]3173
33013390574 rs762078339 0.000 missenseTSer [S]1171
contig referenceCPro [P]1171
33013391573 rs1265143870 N.D. synonymousGGlu [E]3170
contig referenceAGlu [E]3170
33013393571 rs1335543412 N.D. missenseALys [K]1170
contig referenceGGlu [E]1170
33013394570 rs765421792 0.000 synonymousTGly [G]3169
contig referenceGGly [G]3169
33013395569 rs750839720 0.000 missenseTVal [V]2169
contig referenceGGly [G]2169
33013396568 rs1452627532 N.D. missenseAArg [R]1169
contig referenceGGly [G]1169
33013397567 rs61750964 0.000byClusterbyFreq YessynonymousTThr [T]3168
contig referenceCThr [T]3168
33013400563 rs1398317449 N.D. (12bp) [MKDD]2166
33013401563 rs756065004 0.000byCluster missenseCThr [T]2167
contig referenceTIle [I]2167
33013402562 rs751949732 0.000 missenseGVal [V]1167
contig referenceAIle [I]1167
33014522561 rs747101216 0.000byFreq synonymousTAsp [D]3166
contig referenceCAsp [D]3166
33014524559 rs757080421 0.000byFreq missenseAAsn [N]1166
contig referenceGAsp [D]1166
33014529554 rs1464840895 N.D. missenseGArg [R]2164
contig referenceALys [K]2164
33014532551 rs1017955673 N.D. missenseALys [K]2163
missenseCThr [T]2163
missenseGArg [R]2163
contig referenceTMet [M]2163
33014533550 rs778642774 0.000 missenseGVal [V]1163
missenseTLeu [L]1163
contig referenceAMet [M]1163
33014544539 rs745638583 0.000 missenseTLeu [L]2159
contig referenceCPro [P]2159
33014547536 rs1192524019 N.D. missenseTLeu [L]2158
contig referenceCPro [P]2158
33014548535 rs552815574 0.000byClusterbyFreq missenseTSer [S]1158
contig referenceCPro [P]1158
33014549534 rs146442876 0.000byClusterbyFreq YesmissenseGLys [K]3157
synonymousTAsn [N]3157
contig referenceCAsn [N]3157
33014550533 rs371672441 0.000byClusterbyFreq YesmissenseGSer [S]2157
contig referenceAAsn [N]2157
33014552531 rs773484833 0.000byFreq synonymousTPhe [F]3156
contig referenceCPhe [F]3156
33014555528 rs1310416339 N.D. synonymousAGlu [E]3155
contig referenceGGlu [E]3155
33014560523 rs148421308 0.002byClusterbyFreqWith1000GenomeData0.0034 YesmissenseALys [K]1154
contig referenceGGlu [E]1154
33014561522 rs200924521 0.000byClusterWith1000GenomeData0.0002 YessynonymousTHis [H]3153
contig referenceCHis [H]3153
33014563520 rs1164598375 N.D. missenseGAsp [D]1153
contig referenceCHis [H]1153
33014564519 rs774908387 0.000 synonymousTTyr [Y]3152
contig referenceCTyr [Y]3152
33014565518 rs1214018612 N.D. missenseGCys [C]2152
contig referenceATyr [Y]2152
33014567516 rs1241229733 N.D. synonymousASer [S]3151
contig referenceCSer [S]3151
33014570513 rs1485892249 N.D. synonymousGArg [R]3150
contig referenceTArg [R]3150
33014571512 rs149227118 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAHis [H]2150
missenseTLeu [L]2150
contig referenceGArg [R]2150
33014572511 rs768173996 0.000byFreq missenseGGly [G]1150
missenseTCys [C]1150
contig referenceCArg [R]1150
33014574509 rs1431983080 N.D. missenseAAsp [D]2149
contig referenceGGly [G]2149
33014577506 rs760276418 0.000 missenseAAsn [N]2148
contig referenceGSer [S]2148
33014581502 rs1450280011 N.D. missenseGGlu [E]1147
contig referenceALys [K]1147
33014582501 rs987764285 N.D. synonymousTPro [P]3146
contig referenceCPro [P]3146
33014587496 rs749178848 0.000byClusterbyFreq missenseGAsp [D]1145
contig referenceCHis [H]1145
33014591492 rs142517578 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousCLeu [L]3143
contig referenceGLeu [L]3143
33014592491 rs773402998 N.D. missenseCPro [P]2143
contig referenceTLeu [L]2143
33014593490 rs751935223 N.D. synonymousTLeu [L]1143
contig referenceCLeu [L]1143
33021370485 rs541879563 0.000byFreqWith1000GenomeData0.0002 missenseCAla [A]2141
contig referenceGGly [G]2141
33021371484 rs201344074 0.002 YesmissenseAArg [R]1141
contig referenceGGly [G]1141
33021373482 rs192209857 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTIle [I]2140
contig referenceCThr [T]2140
33021375480 rs1420136221 N.D. synonymousTIle [I]3139
contig referenceCIle [I]3139
33021381474 rs1474503504 N.D. synonymousGArg [R]3137
contig referenceAArg [R]3137
33021382473 rs1167260548 N.D. missenseAGln [Q]2137
contig referenceGArg [R]2137
33021383472 rs1476680673 N.D. nonsenseT1137
contig referenceCArg [R]1137
33021387468 rs1397171594 N.D. synonymousALeu [L]3135
contig referenceGLeu [L]3135
33021388467 rs753822275 N.D. missenseCPro [P]2135
contig referenceTLeu [L]2135
33021391463 rs1491481612 N.D. frame shift-Ala [A]1134
contig referenceCTLeu [L]1134
33021391463 rs1491545733 N.D. frame shiftCPro [P]1134
contig reference-Leu [L]1134
33021396459 rs1310864714 N.D. synonymousTAsp [D]3132
contig referenceCAsp [D]3132
33021398457 rs1044469236 N.D. missenseAAsn [N]1132
contig referenceGAsp [D]1132
33021405450 rs372062388 0.000byClusterbyFreq YesmissenseAArg [R]3129
missenseGArg [R]3129
contig referenceCSer [S]3129
33021406449 rs61750965 0.008byClusterbyFreqWith1000GenomeData0.0022 YesmissenseAAsn [N]2129
missenseTIle [I]2129
contig referenceGSer [S]2129
33021407448 rs773960489 N.D. missenseGGly [G]1129
contig referenceASer [S]1129
33021410445 rs776915597 N.D. missenseGVal [V]1128
contig referenceTPhe [F]1128
33021416439 rs747116598 N.D.byCluster missenseGVal [V]1126
missenseTPhe [F]1126
contig referenceAIle [I]1126
33021423432 rs868768208 N.D. synonymousCAsp [D]3123
contig referenceTAsp [D]3123
33021424431 rs770292274 N.D. missenseGGly [G]2123
contig referenceAAsp [D]2123
33021425430 rs1367851512 N.D. missenseAAsn [N]1123
contig referenceGAsp [D]1123
33021426429 rs1294530746 N.D. frame shift-Ile [I]3123
contig referenceTAsp [D]3123
33021434421 rs61800918 N.D. YesmissenseALys [K]1120
contig referenceGGlu [E]1120
33021435420 rs747379532 0.000 synonymousGLys [K]3119
contig referenceALys [K]3119
33021436419 rs769072312 0.000 missenseGArg [R]2119
contig referenceALys [K]2119
33021439416 rs376621310 0.000byCluster YesmissenseALys [K]2118
contig referenceGArg [R]2118
33021442413 rs761239208 0.000 missenseGArg [R]2117
contig referenceALys [K]2117
33021443412 rs1340710121 N.D. missenseGGlu [E]1117
contig referenceALys [K]1117
33021449406 rs552302095 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseCLeu [L]1115
missenseTLeu [L]1115
contig referenceAMet [M]1115
33021450405 rs1278641396 N.D. synonymousTLeu [L]3114
contig referenceCLeu [L]3114
33021452403 rs1485436107 N.D. missenseTPhe [F]1114
contig referenceCLeu [L]1114
33021453402 rs1358037432 N.D. synonymousTAsp [D]3113
contig referenceCAsp [D]3113
33021456399 rs762650267 0.000byFreq missenseAGlu [E]3112
contig referenceTAsp [D]3112
33021458397 rs765991265 0.000 missenseAAsn [N]1112
contig referenceGAsp [D]1112
33021459396 rs200433299 0.000byClusterbyFreq YessynonymousTLeu [L]3111
contig referenceCLeu [L]3111
33021594392 rs748756451 0.000 missenseCThr [T]2110
contig referenceTMet [M]2110
33021602384 rs1246060248 N.D. synonymousAGln [Q]3107
contig referenceGGln [Q]3107
33021605381 rs770271662 0.000 synonymousAArg [R]3106
contig referenceGArg [R]3106
33021609377 rs1448601987 N.D. missenseCAla [A]2105
contig referenceTVal [V]2105
33021614372 rs772756276 0.000byFreq synonymousTArg [R]3103
contig referenceGArg [R]3103
33021615371 rs762416285 0.000byFreq missenseAGln [Q]2103
contig referenceGArg [R]2103
33021620366 rs1284714767 N.D. synonymousTPhe [F]3101
contig referenceCPhe [F]3101
33021627359 rs770602966 0.000 missenseGGly [G]299
contig referenceAAsp [D]299
33021631355 rs774007251 0.000 synonymousTLeu [L]198
contig referenceCLeu [L]198
33021634352 rs759263381 0.000 missenseAIle [I]197
contig referenceCLeu [L]197
33021636350 rs1158584672 N.D. missenseCSer [S]296
contig referenceTPhe [F]296
33021642344 rs1398680279 N.D. missenseGSer [S]294
contig referenceAAsn [N]294
33021646340 rs767276648 0.000 missenseGGlu [E]193
contig referenceALys [K]193
33021648338 rs919825229 N.D. missenseATyr [Y]292
contig referenceGCys [C]292
33021650336 rs1309279858 N.D. synonymousALeu [L]391
contig referenceGLeu [L]391
33021654332 rs1438169342 N.D. missenseTLeu [L]290
contig referenceCPro [P]290
33021655331 rs1324439618 N.D. missenseAThr [T]190
missenseGAla [A]190
contig referenceCPro [P]190
33021659327 rs752434366 0.000 synonymousAGlu [E]388
contig referenceGGlu [E]388
33021661325 rs760756789 0.000 missenseALys [K]188
contig referenceGGlu [E]188
33021668318 rs41301072 0.002byClusterbyFreqWith1000GenomeData0.0010 YessynonymousALys [K]385
contig referenceGLys [K]385
33021670316 rs781640375 N.D. nonsenseT185
contig referenceALys [K]185
33021673313 rs1283302226 N.D. missenseCGln [Q]184
contig referenceGGlu [E]184
33021675311 rs1469074925 N.D. missenseCThr [T]283
contig referenceTIle [I]283
33021676310 rs184683619 0.001byClusterbyFreqWith1000GenomeData0.0006 YesmissenseGVal [V]183
contig referenceAIle [I]183
33021677309 rs866006573 N.D. synonymousTLeu [L]382
contig referenceCLeu [L]382
33021681305 rs1409182965 N.D. missenseGGly [G]281
contig referenceAGlu [E]281
33021686300 rs758500908 0.000 synonymousTVal [V]379
contig referenceAVal [V]379
33021688298 rs377392897 0.000byCluster YesmissenseAIle [I]179
contig referenceGVal [V]179
33021694292 rs370935115 0.000byClusterbyFreq YesnonsenseT177
missenseALys [K]177
contig referenceGGlu [E]177
33021696290 rs1255944046 N.D. missenseGGly [G]276
contig referenceAAsp [D]276
33021697289 rs755150735 0.000 missenseAAsn [N]176
contig referenceGAsp [D]176
33021699287 rs140838488 0.000byClusterbyFreq YesmissenseTIle [I]275
contig referenceGSer [S]275
33024451273 rs1475672055 N.D. synonymousCAla [A]370
synonymousGAla [A]370
contig referenceTAla [A]370
33024456268 rs778547480 0.000byFreq missenseAAsn [N]169
contig referenceGAsp [D]169
33024459265 rs548856916 0.002byClusterbyFreqWith1000GenomeData0.0006 missenseGVal [V]168
contig referenceAMet [M]168
33024462262 rs771799826 0.000byFreq missenseGAla [A]167
contig referenceAThr [T]167
33024469255 rs1372570224 N.D. synonymousTLeu [L]364
contig referenceGLeu [L]364
33024471253 rs1413183640 N.D. missenseAMet [M]164
contig referenceCLeu [L]164
33024473251 rs774969128 0.000byFreq missenseTMet [M]263
contig referenceALys [K]263
33024473251 rs1256496210 N.D. frame shift-Ser [S]263
contig referenceALys [K]263
33024478246 rs35731438 N.D. Yesframe shift-Ser [S]363
contig referenceALys [K]363
33024485239 rs746812072 0.000 missenseTVal [V]259
contig referenceAGlu [E]259
33024487237 rs1230142020 N.D. synonymousGSer [S]358
contig referenceASer [S]358
33024488236 rs768495242 0.000 missenseTLeu [L]258
contig referenceCSer [S]258
33024489235 rs1231592377 N.D. missenseCPro [P]158
contig referenceTSer [S]158
33024490234 rs61755973 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousAGly [G]357
contig referenceCGly [G]357
33024495229 rs755436444 N.D. missenseCPro [P]156
contig referenceTSer [S]156
33024499225 rs1227843304 N.D. synonymousAVal [V]354
contig referenceGVal [V]354
33024500224 rs761899899 0.000 missenseAGlu [E]254
contig referenceTVal [V]254
33024502222 rs765062571 0.000 missenseAIle [I]353
contig referenceGMet [M]353
33024504220 rs1209687068 N.D. missenseGVal [V]153
contig referenceAMet [M]153
33024508216 rs774527572 0.000 synonymousAArg [R]351
contig referenceGArg [R]351
33024513211 rs1486348512 N.D. missenseGVal [V]150
contig referenceCLeu [L]150
33024517207 rs759492224 0.000 missenseGGlu [E]348
synonymousTAsp [D]348
contig referenceCAsp [D]348
33024522202 rs767804265 0.000 missenseAArg [R]147
contig referenceGGly [G]147
33024527197 rs777602394 N.D. missenseAAsp [D]245
contig referenceCAla [A]245
33024529195 rs752860310 0.000 synonymousGLeu [L]344
contig referenceALeu [L]344
33024532192 rs1171496556 N.D. synonymousCHis [H]343
contig referenceTHis [H]343
33024538186 rs1392403989 N.D. synonymousGVal [V]341
contig referenceCVal [V]341
33024540184 rs906687383 N.D. missenseTPhe [F]141
contig referenceGVal [V]141
33024542182 rs756476576 0.000byFreq missenseATyr [Y]240
contig referenceGCys [C]240
33024544180 rs764509277 0.000byFreq missenseGLeu [L]339
synonymousTPhe [F]339
contig referenceCPhe [F]339
33024555169 rs1376349075 N.D. missenseCPro [P]136
contig referenceGAla [A]136
33024558166 rs1004135400 N.D. synonymousCLeu [L]135
contig referenceTLeu [L]135
33024559165 rs757836814 0.000 missenseCSer [S]334
contig referenceAArg [R]334
33024563161 rs1430086126 N.D. missenseGArg [R]233
contig referenceCPro [P]233
33024567157 rs779260498 0.000byFreq missenseAThr [T]132
contig referenceGAla [A]132
33036736156 rs768840004 N.D.byCluster missenseCHis [H]331
contig referenceGGln [Q]331
33036742150 rs564282489 0.000 synonymousAGly [G]329
synonymousCGly [G]329
contig referenceGGly [G]329
33036743149 rs1354684664 N.D. missenseAGlu [E]229
contig referenceGGly [G]229
33036744148 rs747970899 N.D.byCluster missenseAArg [R]129
contig referenceGGly [G]129
33036749143 rs1411289896 N.D. missenseCAla [A]227
contig referenceGGly [G]227
33036750142 rs1310763684 N.D. missenseCArg [R]127
contig referenceGGly [G]127
33036751141 rs1354269929 N.D. synonymousTAla [A]326
contig referenceCAla [A]326
33036754137 rs1233413380 N.D. frame shift(22bp)Arg [R]226
contig reference-Ala [A]226
33036755137 rs1285282131 N.D. missenseAGlu [E]225
contig referenceGGly [G]225
33036756136 rs199641857 0.070byClusterbyFreq YesmissenseAArg [R]125
contig referenceGGly [G]125
33036758134 rs1213138775 N.D. missenseTLeu [L]224
contig referenceCPro [P]224
33036761131 rs1416181470 N.D. missenseTLeu [L]223
contig referenceCPro [P]223
33036763129 rs777773553 0.002byFreq synonymousAGly [G]322
synonymousTGly [G]322
contig referenceGGly [G]322
33036764128 rs1483472037 N.D. missenseTVal [V]222
contig referenceGGly [G]222
33036767125 rs915278688 N.D. missenseCPro [P]221
contig referenceTLeu [L]221
33036769123 rs1207555639 N.D. synonymousALeu [L]320
synonymousCLeu [L]320
contig referenceGLeu [L]320
33036772120 rs371268140 0.000byClusterbyFreq YessynonymousAVal [V]319
contig referenceGVal [V]319
33036773119 rs1296023257 N.D. missenseGGly [G]219
contig referenceTVal [V]219
33036774118 rs761910421 0.000byFreq missenseAMet [M]119
contig referenceGVal [V]119
33036775117 rs76061645 0.107byClusterbyFreqWith1000GenomeData YessynonymousTAla [A]318
contig referenceCAla [A]318
33036777115 rs760718065 0.000byFreq missenseAThr [T]118
contig referenceGAla [A]118
33036779113 rs1474386632 N.D. missenseAGln [Q]217
contig referenceGArg [R]217
33036780112 rs138577419 0.005byClusterbyFreqWith1000GenomeData0.0006 YesmissenseGGly [G]117
missenseTTrp [W]117
synonymousAArg [R]117
contig referenceCArg [R]117
33036782110 rs762239891 0.000byFreq missenseGSer [S]216
contig referenceTIle [I]216
33036784108 rs1431474914 N.D. synonymousTGly [G]315
contig referenceCGly [G]315
33036785107 rs765584905 0.000byFreq missenseTVal [V]215
contig referenceGGly [G]215
33036786106 rs1374529054 N.D. missenseASer [S]115
contig referenceGGly [G]115
33036792100 rs1227064309 N.D. missenseTSer [S]113
contig referenceCPro [P]113
3303679399 rs750782742 0.000 synonymousCTyr [Y]312
contig referenceTTyr [Y]312
3303679498 rs763415295 0.000byFreq missenseGCys [C]212
contig referenceATyr [Y]212
3303679696 rs766961297 0.000 synonymousAGlu [E]311
contig referenceGGlu [E]311
3303679795 rs1429254472 N.D. missenseTVal [V]211
contig referenceAGlu [E]211
3303679894 rs751145915 0.000byFreq missenseALys [K]111
contig referenceGGlu [E]111
3303679993 rs754486128 0.000 synonymousGPro [P]310
synonymousTPro [P]310
contig referenceCPro [P]310
3303680092 rs767290432 0.000 missenseGArg [R]210
contig referenceCPro [P]210
3303680290 rs752225806 0.000 missenseTAsp [D]39
contig referenceAGlu [E]39
3303680884 rs943611895 N.D. synonymousCAla [A]37
contig referenceGAla [A]37
3303680983 rs901174354 N.D. missenseAGlu [E]27
missenseTVal [V]27
contig referenceCAla [A]27
3303681082 rs777487107 0.000 missenseTSer [S]17
contig referenceGAla [A]17
3303681280 rs1192383307 N.D. missenseTLeu [L]26
contig referenceCPro [P]26
3303681379 rs749088654 0.000 missenseTSer [S]16
contig referenceCPro [P]16
3303681478 rs998424635 N.D. synonymousAVal [V]35
contig referenceGVal [V]35
3303681676 rs1451078566 N.D. missenseAMet [M]15
contig referenceGVal [V]15
3303681775 rs374209518 0.000byCluster YesmissenseAArg [R]34
synonymousTSer [S]34
contig referenceCSer [S]34
3303682171 rs1255431837 N.D. missenseTLeu [L]23
contig referenceCPro [P]23
3303682270 rs778787306 0.000 missenseAThr [T]13
missenseTSer [S]13
contig referenceCPro [P]13
3303682468 rs1394062153 N.D. missenseTVal [V]22
contig referenceCAla [A]22
3303682666 rs974078943 N.D. missenseAIle [I]31
contig referenceGMet [M]31