SNP Links for Gene (Select 2979) - SNP

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Select item 14915602601.

rs1491560260 has merged into rs1274678524 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 6:42184996 (GRCh38)
6:42152734 (GRCh37)
Canonical SPDI:: NC_000006.12:42184995:GGGGG:GGGG,NC_000006.12:42184995:GGGGG:GGGGGG
Gene:: GUCA1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
-=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.42185000del, NC_000006.12:g.42185000dup, NC_000006.11:g.42152738del, NC_000006.11:g.42152738dup, NG_016216.2:g.14960del, NG_016216.2:g.14960dup, NG_016216.1:g.14961del, NG_016216.1:g.14961dup

Select item 14915569292.

rs1491556929 has merged into rs11418518 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:42195341 (GRCh38)
6:42163079 (GRCh37)
Canonical SPDI:: NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42195329:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GUCA1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.42195341_42195354del, NC_000006.12:g.42195342_42195354del, NC_000006.12:g.42195343_42195354del, NC_000006.12:g.42195344_42195354del, NC_000006.12:g.42195345_42195354del, NC_000006.12:g.42195346_42195354del, NC_000006.12:g.42195347_42195354del, NC_000006.12:g.42195348_42195354del, NC_000006.12:g.42195349_42195354del, NC_000006.12:g.42195350_42195354del, NC_000006.12:g.42195351_42195354del, NC_000006.12:g.42195352_42195354del, NC_000006.12:g.42195353_42195354del, NC_000006.12:g.42195354del, NC_000006.12:g.42195354dup, NC_000006.12:g.42195353_42195354dup, NC_000006.12:g.42195352_42195354dup, NC_000006.12:g.42195351_42195354dup, NC_000006.12:g.42195350_42195354dup, NC_000006.12:g.42195349_42195354dup, NC_000006.12:g.42195348_42195354dup, NC_000006.12:g.42195347_42195354dup, NC_000006.12:g.42195346_42195354dup, NC_000006.12:g.42195345_42195354dup, NC_000006.12:g.42195344_42195354dup, NC_000006.12:g.42195343_42195354dup, NC_000006.12:g.42195342_42195354dup, NC_000006.12:g.42195341_42195354dup, NC_000006.12:g.42195340_42195354dup, NC_000006.12:g.42195339_42195354dup, NC_000006.12:g.42195338_42195354dup, NC_000006.12:g.42195336_42195354dup, NC_000006.12:g.42195335_42195354dup, NC_000006.12:g.42195333_42195354dup, NC_000006.11:g.42163079_42163092del, NC_000006.11:g.42163080_42163092del, NC_000006.11:g.42163081_42163092del, NC_000006.11:g.42163082_42163092del, NC_000006.11:g.42163083_42163092del, NC_000006.11:g.42163084_42163092del, NC_000006.11:g.42163085_42163092del, NC_000006.11:g.42163086_42163092del, NC_000006.11:g.42163087_42163092del, NC_000006.11:g.42163088_42163092del, NC_000006.11:g.42163089_42163092del, NC_000006.11:g.42163090_42163092del, NC_000006.11:g.42163091_42163092del, NC_000006.11:g.42163092del, NC_000006.11:g.42163092dup, NC_000006.11:g.42163091_42163092dup, NC_000006.11:g.42163090_42163092dup, NC_000006.11:g.42163089_42163092dup, NC_000006.11:g.42163088_42163092dup, NC_000006.11:g.42163087_42163092dup, NC_000006.11:g.42163086_42163092dup, NC_000006.11:g.42163085_42163092dup, NC_000006.11:g.42163084_42163092dup, NC_000006.11:g.42163083_42163092dup, NC_000006.11:g.42163082_42163092dup, NC_000006.11:g.42163081_42163092dup, NC_000006.11:g.42163080_42163092dup, NC_000006.11:g.42163079_42163092dup, NC_000006.11:g.42163078_42163092dup, NC_000006.11:g.42163077_42163092dup, NC_000006.11:g.42163076_42163092dup, NC_000006.11:g.42163074_42163092dup, NC_000006.11:g.42163073_42163092dup, NC_000006.11:g.42163071_42163092dup, NG_016216.2:g.4613_4626del, NG_016216.2:g.4614_4626del, NG_016216.2:g.4615_4626del, NG_016216.2:g.4616_4626del, NG_016216.2:g.4617_4626del, NG_016216.2:g.4618_4626del, NG_016216.2:g.4619_4626del, NG_016216.2:g.4620_4626del, NG_016216.2:g.4621_4626del, NG_016216.2:g.4622_4626del, NG_016216.2:g.4623_4626del, NG_016216.2:g.4624_4626del, NG_016216.2:g.4625_4626del, NG_016216.2:g.4626del, NG_016216.2:g.4626dup, NG_016216.2:g.4625_4626dup, NG_016216.2:g.4624_4626dup, NG_016216.2:g.4623_4626dup, NG_016216.2:g.4622_4626dup, NG_016216.2:g.4621_4626dup, NG_016216.2:g.4620_4626dup, NG_016216.2:g.4619_4626dup, NG_016216.2:g.4618_4626dup, NG_016216.2:g.4617_4626dup, NG_016216.2:g.4616_4626dup, NG_016216.2:g.4615_4626dup, NG_016216.2:g.4614_4626dup, NG_016216.2:g.4613_4626dup, NG_016216.2:g.4612_4626dup, NG_016216.2:g.4611_4626dup, NG_016216.2:g.4610_4626dup, NG_016216.2:g.4608_4626dup, NG_016216.2:g.4607_4626dup, NG_016216.2:g.4605_4626dup, NG_016216.1:g.4614_4627del, NG_016216.1:g.4615_4627del, NG_016216.1:g.4616_4627del, NG_016216.1:g.4617_4627del, NG_016216.1:g.4618_4627del, NG_016216.1:g.4619_4627del, NG_016216.1:g.4620_4627del, NG_016216.1:g.4621_4627del, NG_016216.1:g.4622_4627del, NG_016216.1:g.4623_4627del, NG_016216.1:g.4624_4627del, NG_016216.1:g.4625_4627del, NG_016216.1:g.4626_4627del, NG_016216.1:g.4627del, NG_016216.1:g.4627dup, NG_016216.1:g.4626_4627dup, NG_016216.1:g.4625_4627dup, NG_016216.1:g.4624_4627dup, NG_016216.1:g.4623_4627dup, NG_016216.1:g.4622_4627dup, NG_016216.1:g.4621_4627dup, NG_016216.1:g.4620_4627dup, NG_016216.1:g.4619_4627dup, NG_016216.1:g.4618_4627dup, NG_016216.1:g.4617_4627dup, NG_016216.1:g.4616_4627dup, NG_016216.1:g.4615_4627dup, NG_016216.1:g.4614_4627dup, NG_016216.1:g.4613_4627dup, NG_016216.1:g.4612_4627dup, NG_016216.1:g.4611_4627dup, NG_016216.1:g.4609_4627dup, NG_016216.1:g.4608_4627dup, NG_016216.1:g.4606_4627dup

Select item 14912315373.

rs1491231537 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:42193390 (GRCh38)
6:42161128 (GRCh37)
Canonical SPDI:: NC_000006.12:42193388:ACA:A
Gene:: GUCA1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000006.12:g.42193390_42193391del, NC_000006.11:g.42161128_42161129del, NG_016216.2:g.6566_6567del, NG_016216.1:g.6567_6568del

Select item 14911920614.

rs1491192061 has merged into rs60243049 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 6:42196282 (GRCh38)
6:42164020 (GRCh37)
Canonical SPDI:: NC_000006.12:42196272:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:42196272:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:42196272:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:42196272:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:42196272:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:42196272:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: GUCA1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.06776/124 (Korea1K)
-=0.15318/568 (TWINSUK)
-=0.15672/604 (ALSPAC)
HGVS:: NC_000006.12:g.42196282_42196286del, NC_000006.12:g.42196284_42196286del, NC_000006.12:g.42196285_42196286del, NC_000006.12:g.42196286del, NC_000006.12:g.42196286dup, NC_000006.12:g.42196285_42196286dup, NC_000006.11:g.42164020_42164024del, NC_000006.11:g.42164022_42164024del, NC_000006.11:g.42164023_42164024del, NC_000006.11:g.42164024del, NC_000006.11:g.42164024dup, NC_000006.11:g.42164023_42164024dup, NG_016216.2:g.3679_3683del, NG_016216.2:g.3681_3683del, NG_016216.2:g.3682_3683del, NG_016216.2:g.3683del, NG_016216.2:g.3683dup, NG_016216.2:g.3682_3683dup, NG_016216.1:g.3680_3684del, NG_016216.1:g.3682_3684del, NG_016216.1:g.3683_3684del, NG_016216.1:g.3684del, NG_016216.1:g.3684dup, NG_016216.1:g.3683_3684dup

Select item 14911458195.

rs1491145819 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 6:42184995 (GRCh38)
6:42152733 (GRCh37)
Canonical SPDI:: NC_000006.12:42184994:TG:
Gene:: GUCA1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42184995_42184996del, NC_000006.11:g.42152733_42152734del, NG_016216.2:g.14960_14961del, NG_016216.1:g.14961_14962del

Select item 14911257816.

rs1491125781 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 6:42187417 (GRCh38)
6:42155155 (GRCh37)
Canonical SPDI:: NC_000006.12:42187416:AC:
Gene:: GUCA1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000148/19 (GnomAD)
-=0.000468/3 (1000Genomes)
HGVS:: NC_000006.12:g.42187417_42187418del, NC_000006.11:g.42155155_42155156del, NG_016216.2:g.12538_12539del, NG_016216.1:g.12539_12540del

Select item 14910227407.

rs1491022740 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTGTGT [Show Flanks]
Chromosome:: 6:42188308 (GRCh38)
6:42156047 (GRCh37)
Canonical SPDI:: NC_000006.12:42188308:TGTGT:TGTGTCTGTGT
Gene:: GUCA1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTCTGTGT=0.00093/11 (ALFA)
TGTGTC=0.00209/201 (GnomAD)
HGVS:: NC_000006.12:g.42188309_42188313TG[2]TCTGTGT[1], NC_000006.11:g.42156047_42156051TG[2]TCTGTGT[1], NG_016216.2:g.11643_11647AC[2]AGACACA[1], NG_016216.1:g.11644_11648AC[2]AGACACA[1]

Select item 14907806188.

rs1490780618 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 6:42183703 (GRCh38)
6:42151441 (GRCh37)
Canonical SPDI:: NC_000006.12:42183702:CCCCC:CCCC
Gene:: GUCA1B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0.000084/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.42183707del, NC_000006.11:g.42151445del, NG_016216.2:g.16253del, NG_016216.1:g.16254del, NM_002098.6:c.*1112del, NM_002098.5:c.*1112del

Select item 14906413369.

rs1490641336 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:42184152 (GRCh38)
6:42151890 (GRCh37)
Canonical SPDI:: NC_000006.12:42184151:A:C
Gene:: GUCA1B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.42184152A>C, NC_000006.11:g.42151890A>C, NG_016216.2:g.15804T>G, NG_016216.1:g.15805T>G, NM_002098.6:c.*663T>G, NM_002098.5:c.*663T>G

Select item 149007798610.

rs1490077986 has merged into rs1195969425 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 6:42191727 (GRCh38)
6:42159465 (GRCh37)
Canonical SPDI:: NC_000006.12:42191726:AAAAAAA:AAAAAA,NC_000006.12:42191726:AAAAAAA:AAAAAAAA
Gene:: GUCA1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.42191733del, NC_000006.12:g.42191733dup, NC_000006.11:g.42159471del, NC_000006.11:g.42159471dup, NG_016216.2:g.8229del, NG_016216.2:g.8229dup, NG_016216.1:g.8230del, NG_016216.1:g.8230dup

Select item 149003461611.

rs1490034616 [Homo sapiens]

Variant type:: SNV:
Alleles:: AAAAAGAGAGAAAA>-
Chromosome:: no mapping
Canonical SPDI:

Select item 148977651512.

rs1489776515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:42192127 (GRCh38)
6:42159865 (GRCh37)
Canonical SPDI:: NC_000006.12:42192126:G:A,NC_000006.12:42192126:G:T
Gene:: GUCA1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000006.12:g.42192127G>A, NC_000006.12:g.42192127G>T, NC_000006.11:g.42159865G>A, NC_000006.11:g.42159865G>T, NG_016216.2:g.7829C>T, NG_016216.2:g.7829C>A, NG_016216.1:g.7830C>T, NG_016216.1:g.7830C>A

Select item 148966975913.

rs1489669759 [Homo sapiens]

Variant type:: DELINS
Alleles:: CATTCT>- [Show Flanks]
Chromosome:: 6:42189216 (GRCh38)
6:42156954 (GRCh37)
Canonical SPDI:: NC_000006.12:42189213:CTCATTCT:CT
Gene:: GUCA1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.42189216_42189221del, NC_000006.11:g.42156954_42156959del, NG_016216.2:g.10737_10742del, NG_016216.1:g.10738_10743del

Select item 148923471114.

rs1489234711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42186582 (GRCh38)
6:42154320 (GRCh37)
Canonical SPDI:: NC_000006.12:42186581:G:A
Gene:: GUCA1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.42186582G>A, NC_000006.11:g.42154320G>A, NG_016216.2:g.13374C>T, NG_016216.1:g.13375C>T

Select item 148916356715.

rs1489163567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:42185423 (GRCh38)
6:42153161 (GRCh37)
Canonical SPDI:: NC_000006.12:42185422:C:A
Gene:: GUCA1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.42185423C>A, NC_000006.11:g.42153161C>A, NG_016216.2:g.14533G>T, NG_016216.1:g.14534G>T

Select item 148865676816.

rs1488656768 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT,CT [Show Flanks]
Chromosome:: 6:42188314 (GRCh38)
6:42156053 (GRCh37)
Canonical SPDI:: NC_000006.12:42188314:T:TAT,NC_000006.12:42188314:T:TCT
Gene:: GUCA1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
TA=0.000008/1 (GnomAD)
HGVS:: NC_000006.12:g.42188315_42188316insAT, NC_000006.12:g.42188315_42188316insCT, NC_000006.11:g.42156053_42156054insAT, NC_000006.11:g.42156053_42156054insCT, NG_016216.2:g.11641_11642insTA, NG_016216.2:g.11641_11642insGA, NG_016216.1:g.11642_11643insTA, NG_016216.1:g.11642_11643insGA

Select item 148811302217.

rs1488113022 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:42189754 (GRCh38)
6:42157492 (GRCh37)
Canonical SPDI:: NC_000006.12:42189753:C:G,NC_000006.12:42189753:C:T
Gene:: GUCA1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.42189754C>G, NC_000006.12:g.42189754C>T, NC_000006.11:g.42157492C>G, NC_000006.11:g.42157492C>T, NG_016216.2:g.10202G>C, NG_016216.2:g.10202G>A, NG_016216.1:g.10203G>C, NG_016216.1:g.10203G>A

Select item 148802574218.

rs1488025742 has merged into rs143865611 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:42190369 (GRCh38)
6:42158107 (GRCh37)
Canonical SPDI:: NC_000006.12:42190361:TTTTTTTTTTTTTTTTT:TTTTTTT,NC_000006.12:42190361:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:42190361:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:42190361:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:42190361:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:42190361:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:42190361:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:42190361:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:42190361:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:42190361:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:42190361:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:42190361:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:42190361:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:42190361:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:42190361:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:42190361:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:42190361:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:42190361:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:42190361:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:42190361:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:42190361:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:42190361:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GUCA1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.42190369_42190378del, NC_000006.12:g.42190373_42190378del, NC_000006.12:g.42190374_42190378del, NC_000006.12:g.42190375_42190378del, NC_000006.12:g.42190376_42190378del, NC_000006.12:g.42190377_42190378del, NC_000006.12:g.42190378del, NC_000006.12:g.42190378dup, NC_000006.12:g.42190377_42190378dup, NC_000006.12:g.42190376_42190378dup, NC_000006.12:g.42190375_42190378dup, NC_000006.12:g.42190374_42190378dup, NC_000006.12:g.42190373_42190378dup, NC_000006.12:g.42190372_42190378dup, NC_000006.12:g.42190371_42190378dup, NC_000006.12:g.42190370_42190378dup, NC_000006.12:g.42190369_42190378dup, NC_000006.12:g.42190368_42190378dup, NC_000006.12:g.42190367_42190378dup, NC_000006.12:g.42190365_42190378dup, NC_000006.12:g.42190378_42190379insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.42190378_42190379insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.42158107_42158116del, NC_000006.11:g.42158111_42158116del, NC_000006.11:g.42158112_42158116del, NC_000006.11:g.42158113_42158116del, NC_000006.11:g.42158114_42158116del, NC_000006.11:g.42158115_42158116del, NC_000006.11:g.42158116del, NC_000006.11:g.42158116dup, NC_000006.11:g.42158115_42158116dup, NC_000006.11:g.42158114_42158116dup, NC_000006.11:g.42158113_42158116dup, NC_000006.11:g.42158112_42158116dup, NC_000006.11:g.42158111_42158116dup, NC_000006.11:g.42158110_42158116dup, NC_000006.11:g.42158109_42158116dup, NC_000006.11:g.42158108_42158116dup, NC_000006.11:g.42158107_42158116dup, NC_000006.11:g.42158106_42158116dup, NC_000006.11:g.42158105_42158116dup, NC_000006.11:g.42158103_42158116dup, NC_000006.11:g.42158116_42158117insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.42158116_42158117insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016216.2:g.9585_9594del, NG_016216.2:g.9589_9594del, NG_016216.2:g.9590_9594del, NG_016216.2:g.9591_9594del, NG_016216.2:g.9592_9594del, NG_016216.2:g.9593_9594del, NG_016216.2:g.9594del, NG_016216.2:g.9594dup, NG_016216.2:g.9593_9594dup, NG_016216.2:g.9592_9594dup, NG_016216.2:g.9591_9594dup, NG_016216.2:g.9590_9594dup, NG_016216.2:g.9589_9594dup, NG_016216.2:g.9588_9594dup, NG_016216.2:g.9587_9594dup, NG_016216.2:g.9586_9594dup, NG_016216.2:g.9585_9594dup, NG_016216.2:g.9584_9594dup, NG_016216.2:g.9583_9594dup, NG_016216.2:g.9581_9594dup, NG_016216.2:g.9594_9595insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_016216.2:g.9594_9595insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_016216.1:g.9586_9595del, NG_016216.1:g.9590_9595del, NG_016216.1:g.9591_9595del, NG_016216.1:g.9592_9595del, NG_016216.1:g.9593_9595del, NG_016216.1:g.9594_9595del, NG_016216.1:g.9595del, NG_016216.1:g.9595dup, NG_016216.1:g.9594_9595dup, NG_016216.1:g.9593_9595dup, NG_016216.1:g.9592_9595dup, NG_016216.1:g.9591_9595dup, NG_016216.1:g.9590_9595dup, NG_016216.1:g.9589_9595dup, NG_016216.1:g.9588_9595dup, NG_016216.1:g.9587_9595dup, NG_016216.1:g.9586_9595dup, NG_016216.1:g.9585_9595dup, NG_016216.1:g.9584_9595dup, NG_016216.1:g.9582_9595dup, NG_016216.1:g.9595_9596insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_016216.1:g.9595_9596insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 148780855019.

rs1487808550 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:42189029 (GRCh38)
6:42156767 (GRCh37)
Canonical SPDI:: NC_000006.12:42189028:C:A
Gene:: GUCA1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.42189029C>A, NC_000006.11:g.42156767C>A, NG_016216.2:g.10927G>T, NG_016216.1:g.10928G>T

Select item 148766430420.

rs1487664304 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:42194826 (GRCh38)
6:42162564 (GRCh37)
Canonical SPDI:: NC_000006.12:42194825:C:A
Gene:: GUCA1B (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: A=0.000006/1 (GnomAD_exomes)
A=0.000071/1 (TOMMO)
HGVS:: NC_000006.12:g.42194826C>A, NC_000006.11:g.42162564C>A, NG_016216.2:g.5130G>T, NG_016216.1:g.5131G>T, NM_002098.6:c.-6G>T, NM_002098.5:c.-6G>T

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