SNP Links for Gene (Select 51455) - SNP

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Select item 14915318841.

rs1491531884 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:99483034 (GRCh38)
2:100099496 (GRCh37)
Canonical SPDI:: NC_000002.12:99483033:AT:
Gene:: REV1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.99483034_99483035del, NC_000002.11:g.100099496_100099497del, XM_017004309.3:c.-856_-855del, XM_017004310.2:c.-3049_-3048del, XM_017004313.2:c.-3049_-3048del, XM_047444717.1:c.-3049_-3048del, XM_047444718.1:c.-3049_-3048del, XM_047444720.1:c.-856_-855del, XM_047444725.1:c.-3049_-3048del

Select item 14914726392.

rs1491472639 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,G,T [Show Flanks]
Chromosome:: 2:99409864 (GRCh38)
2:100026327 (GRCh37)
Canonical SPDI:: NC_000002.12:99409864::A,NC_000002.12:99409864::G,NC_000002.12:99409864::T
Gene:: REV1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00004/1 (TOMMO)
HGVS:: NC_000002.12:g.99409864_99409865insA, NC_000002.12:g.99409864_99409865insG, NC_000002.12:g.99409864_99409865insT, NC_000002.11:g.100026326_100026327insA, NC_000002.11:g.100026326_100026327insG, NC_000002.11:g.100026326_100026327insT

Select item 14914548633.

rs1491454863 has merged into rs755184253 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,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,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:99416920 (GRCh38)
2:100033382 (GRCh37)
Canonical SPDI:: NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99416912:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: REV1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.99416920_99416933del, NC_000002.12:g.99416922_99416933del, NC_000002.12:g.99416923_99416933del, NC_000002.12:g.99416924_99416933del, NC_000002.12:g.99416925_99416933del, NC_000002.12:g.99416926_99416933del, NC_000002.12:g.99416927_99416933del, NC_000002.12:g.99416928_99416933del, NC_000002.12:g.99416929_99416933del, NC_000002.12:g.99416930_99416933del, NC_000002.12:g.99416931_99416933del, NC_000002.12:g.99416932_99416933del, NC_000002.12:g.99416933del, NC_000002.12:g.99416933dup, NC_000002.12:g.99416932_99416933dup, NC_000002.12:g.99416931_99416933dup, NC_000002.12:g.99416930_99416933dup, NC_000002.12:g.99416929_99416933dup, NC_000002.12:g.99416928_99416933dup, NC_000002.12:g.99416927_99416933dup, NC_000002.12:g.99416926_99416933dup, NC_000002.12:g.99416925_99416933dup, NC_000002.12:g.99416924_99416933dup, NC_000002.12:g.99416923_99416933dup, NC_000002.12:g.99416922_99416933dup, NC_000002.12:g.99416921_99416933dup, NC_000002.12:g.99416920_99416933dup, NC_000002.12:g.99416919_99416933dup, NC_000002.12:g.99416918_99416933dup, NC_000002.12:g.99416917_99416933dup, NC_000002.12:g.99416916_99416933dup, NC_000002.12:g.99416915_99416933dup, NC_000002.12:g.99416913_99416933dup, NC_000002.12:g.99416933_99416934insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.99416933_99416934insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.99416933_99416934insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.100033382_100033395del, NC_000002.11:g.100033384_100033395del, NC_000002.11:g.100033385_100033395del, NC_000002.11:g.100033386_100033395del, NC_000002.11:g.100033387_100033395del, NC_000002.11:g.100033388_100033395del, NC_000002.11:g.100033389_100033395del, NC_000002.11:g.100033390_100033395del, NC_000002.11:g.100033391_100033395del, NC_000002.11:g.100033392_100033395del, NC_000002.11:g.100033393_100033395del, NC_000002.11:g.100033394_100033395del, NC_000002.11:g.100033395del, NC_000002.11:g.100033395dup, NC_000002.11:g.100033394_100033395dup, NC_000002.11:g.100033393_100033395dup, NC_000002.11:g.100033392_100033395dup, NC_000002.11:g.100033391_100033395dup, NC_000002.11:g.100033390_100033395dup, NC_000002.11:g.100033389_100033395dup, NC_000002.11:g.100033388_100033395dup, NC_000002.11:g.100033387_100033395dup, NC_000002.11:g.100033386_100033395dup, NC_000002.11:g.100033385_100033395dup, NC_000002.11:g.100033384_100033395dup, NC_000002.11:g.100033383_100033395dup, NC_000002.11:g.100033382_100033395dup, NC_000002.11:g.100033381_100033395dup, NC_000002.11:g.100033380_100033395dup, NC_000002.11:g.100033379_100033395dup, NC_000002.11:g.100033378_100033395dup, NC_000002.11:g.100033377_100033395dup, NC_000002.11:g.100033375_100033395dup, NC_000002.11:g.100033395_100033396insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.100033395_100033396insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.100033395_100033396insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914099944.

rs1491409994 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:99412283 (GRCh38)
2:100028745 (GRCh37)
Canonical SPDI:: NC_000002.12:99412281:ACA:A
Gene:: REV1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
-=0.000214/29 (GnomAD)
-=0.000319/9 (TOMMO)
-=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.99412283_99412284del, NC_000002.11:g.100028745_100028746del

Select item 14913874945.

rs1491387494 has merged into rs36096966 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCCC>-,CC,CCC,CCCC,CCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC [Show Flanks]
Chromosome:: 2:99409862 (GRCh38)
2:100026324 (GRCh37)
Canonical SPDI:: NC_000002.12:99409853:CCCCCCCCCCCCCC:CCCCCCCC,NC_000002.12:99409853:CCCCCCCCCCCCCC:CCCCCCCCCC,NC_000002.12:99409853:CCCCCCCCCCCCCC:CCCCCCCCCCC,NC_000002.12:99409853:CCCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000002.12:99409853:CCCCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000002.12:99409853:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000002.12:99409853:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000002.12:99409853:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000002.12:99409853:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000002.12:99409853:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000002.12:99409853:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000002.12:99409853:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC
Gene:: REV1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCC=0./0 (ALFA)
HGVS:: NC_000002.12:g.99409862_99409867del, NC_000002.12:g.99409864_99409867del, NC_000002.12:g.99409865_99409867del, NC_000002.12:g.99409866_99409867del, NC_000002.12:g.99409867del, NC_000002.12:g.99409867dup, NC_000002.12:g.99409866_99409867dup, NC_000002.12:g.99409865_99409867dup, NC_000002.12:g.99409864_99409867dup, NC_000002.12:g.99409863_99409867dup, NC_000002.12:g.99409862_99409867dup, NC_000002.12:g.99409861_99409867dup, NC_000002.11:g.100026324_100026329del, NC_000002.11:g.100026326_100026329del, NC_000002.11:g.100026327_100026329del, NC_000002.11:g.100026328_100026329del, NC_000002.11:g.100026329del, NC_000002.11:g.100026329dup, NC_000002.11:g.100026328_100026329dup, NC_000002.11:g.100026327_100026329dup, NC_000002.11:g.100026326_100026329dup, NC_000002.11:g.100026325_100026329dup, NC_000002.11:g.100026324_100026329dup, NC_000002.11:g.100026323_100026329dup

Select item 14913779136.

rs1491377913 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:99479345 (GRCh38)
2:100095807 (GRCh37)
Canonical SPDI:: NC_000002.12:99479343:ACA:A
Gene:: REV1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.99479345_99479346del, NC_000002.11:g.100095807_100095808del

Select item 14913570357.

rs1491357035 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:99434541 (GRCh38)
2:100051003 (GRCh37)
Canonical SPDI:: NC_000002.12:99434540:CT:
Gene:: REV1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.99434541_99434542del, NC_000002.11:g.100051003_100051004del

Select item 14913466298.

rs1491346629 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:99409867 (GRCh38)
2:100026329 (GRCh37)
Canonical SPDI:: NC_000002.12:99409866:CA:
Gene:: REV1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00006/5 (GnomAD)
HGVS:: NC_000002.12:g.99409867_99409868del, NC_000002.11:g.100026329_100026330del

Select item 14913430289.

rs1491343028 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA,CAA,CCA,CCCA,CCCCA,CCCCCA,GA [Show Flanks]
Chromosome:: 2:99409867 (GRCh38)
2:100026330 (GRCh37)
Canonical SPDI:: NC_000002.12:99409867::CA,NC_000002.12:99409867::CAA,NC_000002.12:99409867::CCA,NC_000002.12:99409867::CCCA,NC_000002.12:99409867::CCCCA,NC_000002.12:99409867::CCCCCA,NC_000002.12:99409867::GA
Gene:: REV1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAA=0./0 (ALFA)
CAA=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.99409867_99409868insCA, NC_000002.12:g.99409867_99409868insCAA, NC_000002.12:g.99409867_99409868insCCA, NC_000002.12:g.99409867_99409868insCCCA, NC_000002.12:g.99409867_99409868insCCCCA, NC_000002.12:g.99409867_99409868insCCCCCA, NC_000002.12:g.99409867_99409868insGA, NC_000002.11:g.100026329_100026330insCA, NC_000002.11:g.100026329_100026330insCAA, NC_000002.11:g.100026329_100026330insCCA, NC_000002.11:g.100026329_100026330insCCCA, NC_000002.11:g.100026329_100026330insCCCCA, NC_000002.11:g.100026329_100026330insCCCCCA, NC_000002.11:g.100026329_100026330insGA

Select item 149134140910.

rs1491341409 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:99416912 (GRCh38)
2:100033374 (GRCh37)
Canonical SPDI:: NC_000002.12:99416911:CA:
Gene:: REV1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.99416912_99416913del, NC_000002.11:g.100033374_100033375del

Select item 149132595511.

rs1491325955 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 2:99409853 (GRCh38)
2:100026315 (GRCh37)
Canonical SPDI:: NC_000002.12:99409852:AC:
Gene:: REV1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.03195/379 (ALFA)
-=0.0004/11 (TOMMO)
HGVS:: NC_000002.12:g.99409853_99409854del, NC_000002.11:g.100026315_100026316del

Select item 149132077112.

rs1491320771 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAAAAAAAC [Show Flanks]
Chromosome:: 2:99412282 (GRCh38)
2:100028745 (GRCh37)
Canonical SPDI:: NC_000002.12:99412282::AAAAAAAAAC
Gene:: REV1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000002.12:g.99412282_99412283insAAAAAAAAAC, NC_000002.11:g.100028744_100028745insAAAAAAAAAC

Select item 149130947213.

rs1491309472 has merged into rs549064397 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 2:99434542 (GRCh38)
2:100051004 (GRCh37)
Canonical SPDI:: NC_000002.12:99434541:TTTTTTTT:TTTTTTT,NC_000002.12:99434541:TTTTTTTT:TTTTTTTTT
Gene:: REV1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0.00005/1 (ALFA)
-=0.00007/1 (TOMMO)
-=0.00022/1 (Estonian)
-=0.001/1 (GoNL)
HGVS:: NC_000002.12:g.99434549del, NC_000002.12:g.99434549dup, NC_000002.11:g.100051011del, NC_000002.11:g.100051011dup

Select item 149129642414.

rs1491296424 has merged into rs869170472 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:99407087 (GRCh38)
2:100023549 (GRCh37)
Canonical SPDI:: NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99407080:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: REV1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.99407087_99407107del, NC_000002.12:g.99407089_99407107del, NC_000002.12:g.99407091_99407107del, NC_000002.12:g.99407092_99407107del, NC_000002.12:g.99407093_99407107del, NC_000002.12:g.99407094_99407107del, NC_000002.12:g.99407095_99407107del, NC_000002.12:g.99407096_99407107del, NC_000002.12:g.99407097_99407107del, NC_000002.12:g.99407098_99407107del, NC_000002.12:g.99407099_99407107del, NC_000002.12:g.99407100_99407107del, NC_000002.12:g.99407101_99407107del, NC_000002.12:g.99407102_99407107del, NC_000002.12:g.99407103_99407107del, NC_000002.12:g.99407104_99407107del, NC_000002.12:g.99407105_99407107del, NC_000002.12:g.99407106_99407107del, NC_000002.12:g.99407107del, NC_000002.12:g.99407107dup, NC_000002.12:g.99407106_99407107dup, NC_000002.12:g.99407105_99407107dup, NC_000002.12:g.99407104_99407107dup, NC_000002.12:g.99407103_99407107dup, NC_000002.12:g.99407102_99407107dup, NC_000002.12:g.99407101_99407107dup, NC_000002.12:g.99407100_99407107dup, NC_000002.12:g.99407099_99407107dup, NC_000002.12:g.99407098_99407107dup, NC_000002.12:g.99407097_99407107dup, NC_000002.12:g.99407096_99407107dup, NC_000002.12:g.99407095_99407107dup, NC_000002.12:g.99407094_99407107dup, NC_000002.12:g.99407093_99407107dup, NC_000002.12:g.99407091_99407107dup, NC_000002.12:g.99407090_99407107dup, NC_000002.12:g.99407089_99407107dup, NC_000002.12:g.99407088_99407107dup, NC_000002.12:g.99407087_99407107dup, NC_000002.12:g.99407086_99407107dup, NC_000002.12:g.99407085_99407107dup, NC_000002.12:g.99407084_99407107dup, NC_000002.12:g.99407083_99407107dup, NC_000002.12:g.99407082_99407107dup, NC_000002.12:g.99407107_99407108insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.99407107_99407108insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.99407107_99407108insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.99407107_99407108insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.99407107_99407108insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.99407107_99407108insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.99407107_99407108insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.100023549_100023569del, NC_000002.11:g.100023551_100023569del, NC_000002.11:g.100023553_100023569del, NC_000002.11:g.100023554_100023569del, NC_000002.11:g.100023555_100023569del, NC_000002.11:g.100023556_100023569del, NC_000002.11:g.100023557_100023569del, NC_000002.11:g.100023558_100023569del, NC_000002.11:g.100023559_100023569del, NC_000002.11:g.100023560_100023569del, NC_000002.11:g.100023561_100023569del, NC_000002.11:g.100023562_100023569del, NC_000002.11:g.100023563_100023569del, NC_000002.11:g.100023564_100023569del, NC_000002.11:g.100023565_100023569del, NC_000002.11:g.100023566_100023569del, NC_000002.11:g.100023567_100023569del, NC_000002.11:g.100023568_100023569del, NC_000002.11:g.100023569del, NC_000002.11:g.100023569dup, NC_000002.11:g.100023568_100023569dup, NC_000002.11:g.100023567_100023569dup, NC_000002.11:g.100023566_100023569dup, NC_000002.11:g.100023565_100023569dup, NC_000002.11:g.100023564_100023569dup, NC_000002.11:g.100023563_100023569dup, NC_000002.11:g.100023562_100023569dup, NC_000002.11:g.100023561_100023569dup, NC_000002.11:g.100023560_100023569dup, NC_000002.11:g.100023559_100023569dup, NC_000002.11:g.100023558_100023569dup, NC_000002.11:g.100023557_100023569dup, NC_000002.11:g.100023556_100023569dup, NC_000002.11:g.100023555_100023569dup, NC_000002.11:g.100023553_100023569dup, NC_000002.11:g.100023552_100023569dup, NC_000002.11:g.100023551_100023569dup, NC_000002.11:g.100023550_100023569dup, NC_000002.11:g.100023549_100023569dup, NC_000002.11:g.100023548_100023569dup, NC_000002.11:g.100023547_100023569dup, NC_000002.11:g.100023546_100023569dup, NC_000002.11:g.100023545_100023569dup, NC_000002.11:g.100023544_100023569dup, NC_000002.11:g.100023569_100023570insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.100023569_100023570insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.100023569_100023570insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.100023569_100023570insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.100023569_100023570insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.100023569_100023570insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.100023569_100023570insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149126182215.

rs1491261822 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:99409854 (GRCh38)
2:100026317 (GRCh37)
Canonical SPDI:: NC_000002.12:99409854::G
Gene:: REV1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00016/2 (GnomAD)
HGVS:: NC_000002.12:g.99409854_99409855insG, NC_000002.11:g.100026316_100026317insG

Select item 149112634316.

rs1491126343 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAG [Show Flanks]
Chromosome:: 2:99400195 (GRCh38)
2:100016659 (GRCh37)
Canonical SPDI:: NC_000002.12:99400195:GAG:GAGGAG
Gene:: EIF5B (Varview), REV1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGAG=0./0 (ALFA)
GAG=0.000004/1 (TOPMED)
GAG=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.99400196_99400198dup, NC_000002.11:g.100016659_100016661dup, NM_015904.4:c.*782_*784dup, NM_015904.3:c.*782_*784dup

Select item 149108347417.

rs1491083474 has merged into rs201658669 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA [Show Flanks]
Chromosome:: 2:99459218 (GRCh38)
2:100075680 (GRCh37)
Canonical SPDI:: NC_000002.12:99459207:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:99459207:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:99459207:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:99459207:AAAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: REV1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.367/218 (NorthernSweden)
A=0.4139/2073 (1000Genomes)
A=0.4337/1608 (TWINSUK)
A=0.446/1719 (ALSPAC)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000002.12:g.99459218_99459220del, NC_000002.12:g.99459219_99459220del, NC_000002.12:g.99459220del, NC_000002.12:g.99459220dup, NC_000002.11:g.100075680_100075682del, NC_000002.11:g.100075681_100075682del, NC_000002.11:g.100075682del, NC_000002.11:g.100075682dup

Select item 149103176118.

rs1491031761 has merged into rs540388372 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 2:99483032 (GRCh38)
2:100099494 (GRCh37)
Canonical SPDI:: NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: REV1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.99483032_99483034del, NC_000002.12:g.99483033_99483034del, NC_000002.12:g.99483034del, NC_000002.12:g.99483034dup, NC_000002.12:g.99483033_99483034dup, NC_000002.12:g.99483032_99483034dup, NC_000002.11:g.100099494_100099496del, NC_000002.11:g.100099495_100099496del, NC_000002.11:g.100099496del, NC_000002.11:g.100099496dup, NC_000002.11:g.100099495_100099496dup, NC_000002.11:g.100099494_100099496dup, XM_017004309.3:c.-841_-839del, XM_017004309.3:c.-840_-839del, XM_017004309.3:c.-839del, XM_017004309.3:c.-839dup, XM_017004309.3:c.-840_-839dup, XM_017004309.3:c.-841_-839dup, XM_017004310.2:c.-3034_-3032del, XM_017004310.2:c.-3033_-3032del, XM_017004310.2:c.-3032del, XM_017004310.2:c.-3032dup, XM_017004310.2:c.-3033_-3032dup, XM_017004310.2:c.-3034_-3032dup, XM_017004313.2:c.-3034_-3032del, XM_017004313.2:c.-3033_-3032del, XM_017004313.2:c.-3032del, XM_017004313.2:c.-3032dup, XM_017004313.2:c.-3033_-3032dup, XM_017004313.2:c.-3034_-3032dup, XM_047444717.1:c.-3034_-3032del, XM_047444717.1:c.-3033_-3032del, XM_047444717.1:c.-3032del, XM_047444717.1:c.-3032dup, XM_047444717.1:c.-3033_-3032dup, XM_047444717.1:c.-3034_-3032dup, XM_047444718.1:c.-3034_-3032del, XM_047444718.1:c.-3033_-3032del, XM_047444718.1:c.-3032del, XM_047444718.1:c.-3032dup, XM_047444718.1:c.-3033_-3032dup, XM_047444718.1:c.-3034_-3032dup, XM_047444720.1:c.-841_-839del, XM_047444720.1:c.-840_-839del, XM_047444720.1:c.-839del, XM_047444720.1:c.-839dup, XM_047444720.1:c.-840_-839dup, XM_047444720.1:c.-841_-839dup, XM_047444725.1:c.-3034_-3032del, XM_047444725.1:c.-3033_-3032del, XM_047444725.1:c.-3032del, XM_047444725.1:c.-3032dup, XM_047444725.1:c.-3033_-3032dup, XM_047444725.1:c.-3034_-3032dup

Select item 149101419919.

rs1491014199 has merged into rs61160561 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 2:99468190 (GRCh38)
2:100084652 (GRCh37)
Canonical SPDI:: NC_000002.12:99468180:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:99468180:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:99468180:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:99468180:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:99468180:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:99468180:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:99468180:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:99468180:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: REV1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.4234/1570 (TWINSUK)
A=0.4289/2148 (1000Genomes)
A=0.4429/1707 (ALSPAC)
A=0.475/19 (GENOME_DK)
HGVS:: NC_000002.12:g.99468190_99468194del, NC_000002.12:g.99468191_99468194del, NC_000002.12:g.99468192_99468194del, NC_000002.12:g.99468193_99468194del, NC_000002.12:g.99468194del, NC_000002.12:g.99468194dup, NC_000002.12:g.99468193_99468194dup, NC_000002.12:g.99468191_99468194dup, NC_000002.11:g.100084652_100084656del, NC_000002.11:g.100084653_100084656del, NC_000002.11:g.100084654_100084656del, NC_000002.11:g.100084655_100084656del, NC_000002.11:g.100084656del, NC_000002.11:g.100084656dup, NC_000002.11:g.100084655_100084656dup, NC_000002.11:g.100084653_100084656dup

Select item 149101163820.

rs1491011638 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,T [Show Flanks]
Chromosome:: 2:99409855 (GRCh38)
2:100026318 (GRCh37)
Canonical SPDI:: NC_000002.12:99409855::A,NC_000002.12:99409855::T
Gene:: REV1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.99409855_99409856insA, NC_000002.12:g.99409855_99409856insT, NC_000002.11:g.100026317_100026318insA, NC_000002.11:g.100026317_100026318insT

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