SNP Links for Gene (Select 3137) - SNP

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Select item 14911581131.

rs1491158113 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 6:30009380 (GRCh38)
6:29977157 (GRCh37)
Canonical SPDI:: NC_000006.12:30009377:GGGG:GG
Gene:: HLA-J (Varview), ZNRD1ASP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.001669/195 (ExAC)
HGVS:: NC_000006.12:g.30009380_30009381del, NC_000006.11:g.29977157_29977158del, NT_113891.3:g.1488765_1488766del, NT_113891.2:g.1488871_1488872del, NT_167248.2:g.1264464_1264465del, NT_167248.1:g.1270060_1270061del, NT_167245.2:g.1264915_1264916del, NT_167245.1:g.1270500_1270501del, NT_167249.2:g.1307187_1307188del, NT_167249.1:g.1306485_1306486del, NT_167246.2:g.1270111_1270112del, NT_167246.1:g.1275731_1275732del, NT_167247.2:g.1353436_1353437del, NT_167247.1:g.1359021_1359022del, NT_167244.2:g.1267089_1267090del, NT_167244.1:g.1217005_1217006del

Select item 14910788472.

rs1491078847 has merged into rs3835310 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC [Show Flanks]
Chromosome:: 6:30008196 (GRCh38)
6:29975973 (GRCh37)
Canonical SPDI:: NC_000006.12:30008189:CCCCCCCC:CCCCCC,NC_000006.12:30008189:CCCCCCCC:CCCCCCC,NC_000006.12:30008189:CCCCCCCC:CCCCCCCCC
Gene:: HLA-J (Varview), ZNRD1ASP (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCC=0./0 (ALFA)
-=0.068136/68 (GoNL)
-=0.125566/33236 (TOPMED)
-=0.140072/697 (1000Genomes)
HGVS:: NC_000006.12:g.30008196_30008197del, NC_000006.12:g.30008197del, NC_000006.12:g.30008197dup, NC_000006.11:g.29975973_29975974del, NC_000006.11:g.29975974del, NC_000006.11:g.29975974dup, NT_113891.3:g.1487581_1487582del, NT_113891.3:g.1487582del, NT_113891.3:g.1487582dup, NT_113891.2:g.1487687_1487688del, NT_113891.2:g.1487688del, NT_113891.2:g.1487688dup, NT_167248.2:g.1263294dup, NT_167248.2:g.1263294del, NT_167248.2:g.1263293_1263294dup, NT_167245.2:g.1263731_1263732del, NT_167245.2:g.1263732del, NT_167245.2:g.1263732dup, NT_167245.1:g.1269316_1269317del, NT_167245.1:g.1269317del, NT_167245.1:g.1269317dup, NT_167249.2:g.1306003_1306004del, NT_167249.2:g.1306004del, NT_167249.2:g.1306004dup, NT_167249.1:g.1305301_1305302del, NT_167249.1:g.1305302del, NT_167249.1:g.1305302dup, NT_167246.2:g.1268927_1268928del, NT_167246.2:g.1268928del, NT_167246.2:g.1268928dup, NT_167246.1:g.1274547_1274548del, NT_167246.1:g.1274548del, NT_167246.1:g.1274548dup, NT_167247.2:g.1352252_1352253del, NT_167247.2:g.1352253del, NT_167247.2:g.1352253dup, NT_167247.1:g.1357837_1357838del, NT_167247.1:g.1357838del, NT_167247.1:g.1357838dup, NT_167244.2:g.1265905_1265906del, NT_167244.2:g.1265906del, NT_167244.2:g.1265906dup, NT_167244.1:g.1215821_1215822del, NT_167244.1:g.1215822del, NT_167244.1:g.1215822dup, NR_024240.1:n.677_678del, NR_024240.1:n.678del, NR_024240.1:n.678dup, NT_167248.1:g.1268890dup, NT_167248.1:g.1268890del, NT_167248.1:g.1268889_1268890dup

Select item 14909168373.

rs1490916837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:30006600 (GRCh38)
6:29974377 (GRCh37)
Canonical SPDI:: NC_000006.12:30006599:G:T
Gene:: HLA-J (Varview), ZNRD1ASP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30006600G>T, NC_000006.11:g.29974377G>T, NT_113891.3:g.1485985G>T, NT_113891.2:g.1486091G>T, NT_167248.2:g.1261698G>T, NT_167248.1:g.1267294G>T, NT_167245.2:g.1262135G>T, NT_167245.1:g.1267720G>T, NT_167249.2:g.1304407G>T, NT_167249.1:g.1303705G>T, NT_167246.2:g.1267331G>T, NT_167246.1:g.1272951G>T, NT_167247.2:g.1350656G>T, NT_167247.1:g.1356241G>T, NT_167244.2:g.1264309G>T, NT_167244.1:g.1214225G>T, NR_024240.1:n.330G>T

Select item 14899124964.

rs1489912496 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:30008009 (GRCh38)
6:29975786 (GRCh37)
Canonical SPDI:: NC_000006.12:30008008:A:C
Gene:: HLA-J (Varview), ZNRD1ASP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000006.12:g.30008009A>C, NC_000006.11:g.29975786A>C, NT_113891.3:g.1487394A>C, NT_113891.2:g.1487500A>C, NT_167248.2:g.1263107A>C, NT_167248.1:g.1268703A>C, NT_167245.2:g.1263544A>C, NT_167245.1:g.1269129A>C, NT_167249.2:g.1305816A>C, NT_167249.1:g.1305114A>C, NT_167246.2:g.1268740A>C, NT_167246.1:g.1274360A>C, NT_167247.2:g.1352065A>C, NT_167247.1:g.1357650A>C, NT_167244.2:g.1265718A>C, NT_167244.1:g.1215634A>C

Select item 14897130915.

rs1489713091 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30010406 (GRCh38)
6:29978183 (GRCh37)
Canonical SPDI:: NC_000006.12:30010405:T:C
Gene:: HLA-J (Varview), ZNRD1ASP (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.024448/290 (ALFA)
C=0.003692/455 (GnomAD)
C=0.020478/60 (KOREAN)
C=0.073006/1224 (TOMMO)
C=0.086665/555 (1000Genomes)
T=0.5/2 (SGDP_PRJ)
HGVS:: NC_000006.12:g.30010406T>C, NC_000006.11:g.29978183T>C, NT_113891.3:g.1489791T>C, NT_113891.2:g.1489897T>C, NT_167248.2:g.1265490T>C, NT_167248.1:g.1271086T>C, NT_167245.2:g.1265941T>C, NT_167245.1:g.1271526T>C, NT_167249.2:g.1308213T>C, NT_167249.1:g.1307511T>C, NT_167246.2:g.1271137T>C, NT_167246.1:g.1276757T>C, NT_167247.2:g.1354462T>C, NT_167247.1:g.1360047T>C, NT_167244.2:g.1268115T>C, NT_167244.1:g.1218031T>C

Select item 14884492156.

rs1488449215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30007518 (GRCh38)
6:29975295 (GRCh37)
Canonical SPDI:: NC_000006.12:30007517:G:A
Gene:: HLA-J (Varview), ZNRD1ASP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30007518G>A, NC_000006.11:g.29975295G>A, NT_113891.3:g.1486903G>A, NT_113891.2:g.1487009G>A, NT_167248.2:g.1262616G>A, NT_167248.1:g.1268212G>A, NT_167245.2:g.1263053G>A, NT_167245.1:g.1268638G>A, NT_167249.2:g.1305325G>A, NT_167249.1:g.1304623G>A, NT_167246.2:g.1268249G>A, NT_167246.1:g.1273869G>A, NT_167247.2:g.1351574G>A, NT_167247.1:g.1357159G>A, NT_167244.2:g.1265227G>A, NT_167244.1:g.1215143G>A

Select item 14881237837.

rs1488123783 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30007938 (GRCh38)
6:29975715 (GRCh37)
Canonical SPDI:: NC_000006.12:30007937:T:C
Gene:: HLA-J (Varview), ZNRD1ASP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30007938T>C, NC_000006.11:g.29975715T>C, NT_113891.3:g.1487323T>C, NT_113891.2:g.1487429T>C, NT_167248.2:g.1263036T>C, NT_167248.1:g.1268632T>C, NT_167245.2:g.1263473T>C, NT_167245.1:g.1269058T>C, NT_167249.2:g.1305745T>C, NT_167249.1:g.1305043T>C, NT_167246.2:g.1268669T>C, NT_167246.1:g.1274289T>C, NT_167247.2:g.1351994T>C, NT_167247.1:g.1357579T>C, NT_167244.2:g.1265647T>C, NT_167244.1:g.1215563T>C

Select item 14877545088.

rs1487754508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30008721 (GRCh38)
6:29976498 (GRCh37)
Canonical SPDI:: NC_000006.12:30008720:T:C
Gene:: HLA-J (Varview), ZNRD1ASP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.30008721T>C, NC_000006.11:g.29976498T>C, NT_113891.3:g.1488106T>C, NT_113891.2:g.1488212T>C, NT_167248.2:g.1263805T>C, NT_167248.1:g.1269401T>C, NT_167245.2:g.1264256T>C, NT_167245.1:g.1269841T>C, NT_167249.2:g.1306528T>C, NT_167249.1:g.1305826T>C, NT_167246.2:g.1269452T>C, NT_167246.1:g.1275072T>C, NT_167247.2:g.1352777T>C, NT_167247.1:g.1358362T>C, NT_167244.2:g.1266430T>C, NT_167244.1:g.1216346T>C

Select item 14866446329.

rs1486644632 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30010247 (GRCh38)
6:29978024 (GRCh37)
Canonical SPDI:: NC_000006.12:30010246:T:C
Gene:: HLA-J (Varview), ZNRD1ASP (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.30010247T>C, NC_000006.11:g.29978024T>C, NT_113891.3:g.1489632T>C, NT_113891.2:g.1489738T>C, NT_167248.2:g.1265331T>C, NT_167248.1:g.1270927T>C, NT_167245.2:g.1265782T>C, NT_167245.1:g.1271367T>C, NT_167249.2:g.1308054T>C, NT_167249.1:g.1307352T>C, NT_167246.2:g.1270978T>C, NT_167246.1:g.1276598T>C, NT_167247.2:g.1354303T>C, NT_167247.1:g.1359888T>C, NT_167244.2:g.1267956T>C, NT_167244.1:g.1217872T>C

Select item 148654988710.

rs1486549887 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTCCAGCTCCTCTGAGTCCGA [Show Flanks]
Chromosome:: 6:30007938 (GRCh38)
6:29975716 (GRCh37)
Canonical SPDI:: NC_000006.12:30007938:GA:GATTCCAGCTCCTCTGAGTCCGA
Gene:: HLA-J (Varview), ZNRD1ASP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GATTCCAGCTCCTCTGAGTCCGA=0./0 (ALFA)
GATTCCAGCTCCTCTGAGTCC=0.00005/7 (GnomAD)
HGVS:: NC_000006.12:g.30007940_30007941insTTCCAGCTCCTCTGAGTCCGA, NC_000006.11:g.29975717_29975718insTTCCAGCTCCTCTGAGTCCGA, NT_113891.3:g.1487325_1487326insTTCCAGCTCCTCTGAGTCCGA, NT_113891.2:g.1487431_1487432insTTCCAGCTCCTCTGAGTCCGA, NT_167248.2:g.1263038_1263039insTTCCAGCTCCTCTGAGTCCGA, NT_167248.1:g.1268634_1268635insTTCCAGCTCCTCTGAGTCCGA, NT_167245.2:g.1263475_1263476insTTCCAGCTCCTCTGAGTCCGA, NT_167245.1:g.1269060_1269061insTTCCAGCTCCTCTGAGTCCGA, NT_167249.2:g.1305747_1305748insTTCCAGCTCCTCTGAGTCCGA, NT_167249.1:g.1305045_1305046insTTCCAGCTCCTCTGAGTCCGA, NT_167246.2:g.1268671_1268672insTTCCAGCTCCTCTGAGTCCGA, NT_167246.1:g.1274291_1274292insTTCCAGCTCCTCTGAGTCCGA, NT_167247.2:g.1351996_1351997insTTCCAGCTCCTCTGAGTCCGA, NT_167247.1:g.1357581_1357582insTTCCAGCTCCTCTGAGTCCGA, NT_167244.2:g.1265649_1265650insTTCCAGCTCCTCTGAGTCCGA, NT_167244.1:g.1215565_1215566insTTCCAGCTCCTCTGAGTCCGA

Select item 148632018211.

rs1486320182 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:30006245 (GRCh38)
6:29974022 (GRCh37)
Canonical SPDI:: NC_000006.12:30006244:C:A
Gene:: HLA-J (Varview), ZNRD1ASP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.30006245C>A, NC_000006.11:g.29974022C>A, NT_113891.3:g.1485630C>A, NT_113891.2:g.1485736C>A, NT_167248.2:g.1261343C>A, NT_167248.1:g.1266939C>A, NT_167245.2:g.1261780C>A, NT_167245.1:g.1267365C>A, NT_167249.2:g.1304052C>A, NT_167249.1:g.1303350C>A, NT_167246.2:g.1266976C>A, NT_167246.1:g.1272596C>A, NT_167247.2:g.1350301C>A, NT_167247.1:g.1355886C>A, NT_167244.2:g.1263954C>A, NT_167244.1:g.1213870C>A

Select item 148592494612.

rs1485924946 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30006875 (GRCh38)
6:29974652 (GRCh37)
Canonical SPDI:: NC_000006.12:30006874:G:A
Gene:: HLA-J (Varview), ZNRD1ASP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.30006875G>A, NC_000006.11:g.29974652G>A, NT_113891.3:g.1486260G>A, NT_113891.2:g.1486366G>A, NT_167248.2:g.1261973G>A, NT_167248.1:g.1267569G>A, NT_167245.2:g.1262410G>A, NT_167245.1:g.1267995G>A, NT_167249.2:g.1304682G>A, NT_167249.1:g.1303980G>A, NT_167246.2:g.1267606G>A, NT_167246.1:g.1273226G>A, NT_167247.2:g.1350931G>A, NT_167247.1:g.1356516G>A, NT_167244.2:g.1264584G>A, NT_167244.1:g.1214500G>A, NR_024240.1:n.475G>A

Select item 148520874813.

rs1485208748 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 6:30006793 (GRCh38)
6:29974570 (GRCh37)
Canonical SPDI:: NC_000006.12:30006792:CCCCC:CCCC,NC_000006.12:30006792:CCCCC:CCCCCC
Gene:: HLA-J (Varview), ZNRD1ASP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CCCCCC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30006797del, NC_000006.12:g.30006797dup, NC_000006.11:g.29974574del, NC_000006.11:g.29974574dup, NT_113891.3:g.1486182del, NT_113891.3:g.1486182dup, NT_113891.2:g.1486288del, NT_113891.2:g.1486288dup, NT_167248.2:g.1261895del, NT_167248.2:g.1261895dup, NT_167248.1:g.1267491del, NT_167248.1:g.1267491dup, NT_167245.2:g.1262332del, NT_167245.2:g.1262332dup, NT_167245.1:g.1267917del, NT_167245.1:g.1267917dup, NT_167249.2:g.1304604del, NT_167249.2:g.1304604dup, NT_167249.1:g.1303902del, NT_167249.1:g.1303902dup, NT_167246.2:g.1267528del, NT_167246.2:g.1267528dup, NT_167246.1:g.1273148del, NT_167246.1:g.1273148dup, NT_167247.2:g.1350853del, NT_167247.2:g.1350853dup, NT_167247.1:g.1356438del, NT_167247.1:g.1356438dup, NT_167244.2:g.1264506del, NT_167244.2:g.1264506dup, NT_167244.1:g.1214422del, NT_167244.1:g.1214422dup

Select item 148445587214.

rs1484455872 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30009389 (GRCh38)
6:29977166 (GRCh37)
Canonical SPDI:: NC_000006.12:30009388:T:C
Gene:: HLA-J (Varview), ZNRD1ASP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30009389T>C, NC_000006.11:g.29977166T>C, NT_113891.3:g.1488774T>C, NT_113891.2:g.1488880T>C, NT_167248.2:g.1264473T>C, NT_167248.1:g.1270069T>C, NT_167245.2:g.1264924T>C, NT_167245.1:g.1270509T>C, NT_167249.2:g.1307196T>C, NT_167249.1:g.1306494T>C, NT_167246.2:g.1270120T>C, NT_167246.1:g.1275740T>C, NT_167247.2:g.1353445T>C, NT_167247.1:g.1359030T>C, NT_167244.2:g.1267098T>C, NT_167244.1:g.1217014T>C

Select item 148445356715.

rs1484453567 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:30010243 (GRCh38)
6:29978020 (GRCh37)
Canonical SPDI:: NC_000006.12:30010242:T:G
Gene:: HLA-J (Varview), ZNRD1ASP (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.30010243T>G, NC_000006.11:g.29978020T>G, NT_113891.3:g.1489628T>G, NT_113891.2:g.1489734T>G, NT_167248.2:g.1265327T>G, NT_167248.1:g.1270923T>G, NT_167245.2:g.1265778T>G, NT_167245.1:g.1271363T>G, NT_167249.2:g.1308050T>G, NT_167249.1:g.1307348T>G, NT_167246.2:g.1270974T>G, NT_167246.1:g.1276594T>G, NT_167247.2:g.1354299T>G, NT_167247.1:g.1359884T>G, NT_167244.2:g.1267952T>G, NT_167244.1:g.1217868T>G

Select item 148403478816.

rs1484034788 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30009640 (GRCh38)
6:29977417 (GRCh37)
Canonical SPDI:: NC_000006.12:30009639:T:C
Gene:: HLA-J (Varview), ZNRD1ASP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30009640T>C, NC_000006.11:g.29977417T>C, NT_113891.3:g.1489025T>C, NT_113891.2:g.1489131T>C, NT_167248.2:g.1264724T>C, NT_167248.1:g.1270320T>C, NT_167245.2:g.1265175T>C, NT_167245.1:g.1270760T>C, NT_167249.2:g.1307447T>C, NT_167249.1:g.1306745T>C, NT_167246.2:g.1270371T>C, NT_167246.1:g.1275991T>C, NT_167247.2:g.1353696T>C, NT_167247.1:g.1359281T>C, NT_167244.2:g.1267349T>C, NT_167244.1:g.1217265T>C, NR_024240.1:n.1237T>C

Select item 148396661217.

rs1483966612 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30007508 (GRCh38)
6:29975285 (GRCh37)
Canonical SPDI:: NC_000006.12:30007507:G:A
Gene:: HLA-J (Varview), ZNRD1ASP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30007508G>A, NC_000006.11:g.29975285G>A, NT_113891.3:g.1486893G>A, NT_113891.2:g.1486999G>A, NT_167248.2:g.1262606G>A, NT_167248.1:g.1268202G>A, NT_167245.2:g.1263043G>A, NT_167245.1:g.1268628G>A, NT_167249.2:g.1305315G>A, NT_167249.1:g.1304613G>A, NT_167246.2:g.1268239G>A, NT_167246.1:g.1273859G>A, NT_167247.2:g.1351564G>A, NT_167247.1:g.1357149G>A, NT_167244.2:g.1265217G>A, NT_167244.1:g.1215133G>A

Select item 148375849118.

rs1483758491 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30003971 (GRCh38)
6:29971748 (GRCh37)
Canonical SPDI:: NC_000006.12:30003970:C:T
Gene:: HLA-J (Varview), ZNRD1ASP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000071/1 (TOMMO)
T=0.001027/3 (KOREAN)
HGVS:: NC_000006.12:g.30003971C>T, NC_000006.11:g.29971748C>T, NT_113891.3:g.1483360C>T, NT_113891.2:g.1483466C>T, NT_167248.2:g.1259067C>T, NT_167248.1:g.1264663C>T, NT_167245.2:g.1259510C>T, NT_167245.1:g.1265095C>T, NT_167249.2:g.1301778C>T, NT_167249.1:g.1301076C>T, NT_167246.2:g.1264702C>T, NT_167246.1:g.1270322C>T, NT_167247.2:g.1348027C>T, NT_167247.1:g.1353612C>T, NT_167244.2:g.1261684C>T, NT_167244.1:g.1211600C>T

Select item 148358858919.

rs1483588589 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:30007830 (GRCh38)
6:29975607 (GRCh37)
Canonical SPDI:: NC_000006.12:30007829:T:G
Gene:: HLA-J (Varview), ZNRD1ASP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.30007830T>G, NC_000006.11:g.29975607T>G, NT_113891.3:g.1487215T>G, NT_113891.2:g.1487321T>G, NT_167248.2:g.1262928T>G, NT_167248.1:g.1268524T>G, NT_167245.2:g.1263365T>G, NT_167245.1:g.1268950T>G, NT_167249.2:g.1305637T>G, NT_167249.1:g.1304935T>G, NT_167246.2:g.1268561T>G, NT_167246.1:g.1274181T>G, NT_167247.2:g.1351886T>G, NT_167247.1:g.1357471T>G, NT_167244.2:g.1265539T>G, NT_167244.1:g.1215455T>G

Select item 148346619120.

rs1483466191 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30005091 (GRCh38)
6:29972868 (GRCh37)
Canonical SPDI:: NC_000006.12:30005090:T:C
Gene:: HLA-J (Varview), ZNRD1ASP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.30005091T>C, NC_000006.11:g.29972868T>C, NG_016112.1:g.838A>G, NT_113891.3:g.1484476T>C, NT_113891.2:g.1484582T>C, NT_167249.2:g.1302898T>C, NT_167249.1:g.1302196T>C, NT_167248.2:g.1260187T>C, NT_167248.1:g.1265783T>C, NT_167247.2:g.1349147T>C, NT_167247.1:g.1354732T>C, NT_167246.2:g.1265822T>C, NT_167246.1:g.1271442T>C, NT_167245.2:g.1260626T>C, NT_167245.1:g.1266211T>C, NT_167244.2:g.1262800T>C, NT_167244.1:g.1212716T>C

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