SNP Links for Gene (Select 23507) - SNP

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Select item 14914185351.

rs1491418535 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:89524689 (GRCh38)
1:89990248 (GRCh37)
Canonical SPDI:: NC_000001.11:89524688:TT:
Gene:: LRRC8B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000079/11 (GnomAD)
HGVS:: NC_000001.11:g.89524689_89524690del, NC_000001.10:g.89990248_89990249del

Select item 14914148952.

rs1491414895 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:89581273 (GRCh38)
1:90046832 (GRCh37)
Canonical SPDI:: NC_000001.11:89581272:CA:
Gene:: LRRC8B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00219/26 (ALFA)
-=0.00012/6 (GnomAD)
HGVS:: NC_000001.11:g.89581273_89581274del, NC_000001.10:g.90046832_90046833del

Select item 14913009603.

rs1491300960 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTCCTCCTCCTC [Show Flanks]
Chromosome:: 1:89524689 (GRCh38)
1:89990249 (GRCh37)
Canonical SPDI:: NC_000001.11:89524689:TCCTCCTCTTCCTCCTCCTC:TCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTC
Gene:: LRRC8B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTC=0./0 (ALFA)
TCCTCCTCTTCC=0.000022/3 (GnomAD)
HGVS:: NC_000001.11:g.89524698_89524709dup, NC_000001.10:g.89990257_89990268dup

Select item 14912961414.

rs1491296141 has merged into rs35629610 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT,CTCTCT,CTCTCTCT,CTCTCTCTCT [Show Flanks]
Chromosome:: 1:89529492 (GRCh38)
1:89995051 (GRCh37)
Canonical SPDI:: NC_000001.11:89529478:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCT,NC_000001.11:89529478:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000001.11:89529478:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000001.11:89529478:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000001.11:89529478:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT
Gene:: LRRC8B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCT=0./0 (ALFA)
TC=0.02315/5 (Vietnamese)
TC=0.16167/97 (NorthernSweden)
TC=0.19878/996 (1000Genomes)
TC=0.26786/1200 (Estonian)
TC=0.275/11 (GENOME_DK)
HGVS:: NC_000001.11:g.89529480CT[6], NC_000001.11:g.89529480CT[7], NC_000001.11:g.89529480CT[9], NC_000001.11:g.89529480CT[10], NC_000001.11:g.89529480CT[11], NC_000001.10:g.89995039CT[6], NC_000001.10:g.89995039CT[7], NC_000001.10:g.89995039CT[9], NC_000001.10:g.89995039CT[10], NC_000001.10:g.89995039CT[11]

Select item 14912820545.

rs1491282054 has merged into rs200997401 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:89593390 (GRCh38)
1:90058949 (GRCh37)
Canonical SPDI:: NC_000001.11:89593377:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:89593377:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:89593377:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:89593377:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:89593377:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:89593377:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:89593377:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:89593377:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LRRC8B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.89593390_89593393del, NC_000001.11:g.89593391_89593393del, NC_000001.11:g.89593392_89593393del, NC_000001.11:g.89593393del, NC_000001.11:g.89593393dup, NC_000001.11:g.89593392_89593393dup, NC_000001.11:g.89593391_89593393dup, NC_000001.11:g.89593386_89593393dup, NC_000001.10:g.90058949_90058952del, NC_000001.10:g.90058950_90058952del, NC_000001.10:g.90058951_90058952del, NC_000001.10:g.90058952del, NC_000001.10:g.90058952dup, NC_000001.10:g.90058951_90058952dup, NC_000001.10:g.90058950_90058952dup, NC_000001.10:g.90058945_90058952dup, XM_005270703.6:c.*347_*350del, XM_005270703.6:c.*348_*350del, XM_005270703.6:c.*349_*350del, XM_005270703.6:c.*350del, XM_005270703.6:c.*350dup, XM_005270703.6:c.*349_*350dup, XM_005270703.6:c.*348_*350dup, XM_005270703.6:c.*343_*350dup, XM_005270703.5:c.*347_*350del, XM_005270703.5:c.*348_*350del, XM_005270703.5:c.*349_*350del, XM_005270703.5:c.*350del, XM_005270703.5:c.*350dup, XM_005270703.5:c.*349_*350dup, XM_005270703.5:c.*348_*350dup, XM_005270703.5:c.*343_*350dup, XM_005270703.4:c.*347_*350del, XM_005270703.4:c.*348_*350del, XM_005270703.4:c.*349_*350del, XM_005270703.4:c.*350del, XM_005270703.4:c.*350dup, XM_005270703.4:c.*349_*350dup, XM_005270703.4:c.*348_*350dup, XM_005270703.4:c.*343_*350dup, XM_005270703.3:c.*347_*350del, XM_005270703.3:c.*348_*350del, XM_005270703.3:c.*349_*350del, XM_005270703.3:c.*350del, XM_005270703.3:c.*350dup, XM_005270703.3:c.*349_*350dup, XM_005270703.3:c.*348_*350dup, XM_005270703.3:c.*343_*350dup, XM_005270703.2:c.*347_*350del, XM_005270703.2:c.*348_*350del, XM_005270703.2:c.*349_*350del, XM_005270703.2:c.*350del, XM_005270703.2:c.*350dup, XM_005270703.2:c.*349_*350dup, XM_005270703.2:c.*348_*350dup, XM_005270703.2:c.*343_*350dup, XM_005270703.1:c.*347_*350del, XM_005270703.1:c.*348_*350del, XM_005270703.1:c.*349_*350del, XM_005270703.1:c.*350del, XM_005270703.1:c.*350dup, XM_005270703.1:c.*349_*350dup, XM_005270703.1:c.*348_*350dup, XM_005270703.1:c.*343_*350dup, NM_015350.4:c.*347_*350del, NM_015350.4:c.*348_*350del, NM_015350.4:c.*349_*350del, NM_015350.4:c.*350del, NM_015350.4:c.*350dup, NM_015350.4:c.*349_*350dup, NM_015350.4:c.*348_*350dup, NM_015350.4:c.*343_*350dup, NM_015350.3:c.*347_*350del, NM_015350.3:c.*348_*350del, NM_015350.3:c.*349_*350del, NM_015350.3:c.*350del, NM_015350.3:c.*350dup, NM_015350.3:c.*349_*350dup, NM_015350.3:c.*348_*350dup, NM_015350.3:c.*343_*350dup, NM_015350.2:c.*347_*350del, NM_015350.2:c.*348_*350del, NM_015350.2:c.*349_*350del, NM_015350.2:c.*350del, NM_015350.2:c.*350dup, NM_015350.2:c.*349_*350dup, NM_015350.2:c.*348_*350dup, NM_015350.2:c.*343_*350dup, XM_011541146.4:c.*347_*350del, XM_011541146.4:c.*348_*350del, XM_011541146.4:c.*349_*350del, XM_011541146.4:c.*350del, XM_011541146.4:c.*350dup, XM_011541146.4:c.*349_*350dup, XM_011541146.4:c.*348_*350dup, XM_011541146.4:c.*343_*350dup, XM_011541146.3:c.*347_*350del, XM_011541146.3:c.*348_*350del, XM_011541146.3:c.*349_*350del, XM_011541146.3:c.*350del, XM_011541146.3:c.*350dup, XM_011541146.3:c.*349_*350dup, XM_011541146.3:c.*348_*350dup, XM_011541146.3:c.*343_*350dup, XM_011541146.2:c.*347_*350del, XM_011541146.2:c.*348_*350del, XM_011541146.2:c.*349_*350del, XM_011541146.2:c.*350del, XM_011541146.2:c.*350dup, XM_011541146.2:c.*349_*350dup, XM_011541146.2:c.*348_*350dup, XM_011541146.2:c.*343_*350dup, XM_011541146.1:c.*347_*350del, XM_011541146.1:c.*348_*350del, XM_011541146.1:c.*349_*350del, XM_011541146.1:c.*350del, XM_011541146.1:c.*350dup, XM_011541146.1:c.*349_*350dup, XM_011541146.1:c.*348_*350dup, XM_011541146.1:c.*343_*350dup, XM_011541144.3:c.*347_*350del, XM_011541144.3:c.*348_*350del, XM_011541144.3:c.*349_*350del, XM_011541144.3:c.*350del, XM_011541144.3:c.*350dup, XM_011541144.3:c.*349_*350dup, XM_011541144.3:c.*348_*350dup, XM_011541144.3:c.*343_*350dup, XM_011541144.2:c.*347_*350del, XM_011541144.2:c.*348_*350del, XM_011541144.2:c.*349_*350del, XM_011541144.2:c.*350del, XM_011541144.2:c.*350dup, XM_011541144.2:c.*349_*350dup, XM_011541144.2:c.*348_*350dup, XM_011541144.2:c.*343_*350dup, XM_011541144.1:c.*347_*350del, XM_011541144.1:c.*348_*350del, XM_011541144.1:c.*349_*350del, XM_011541144.1:c.*350del, XM_011541144.1:c.*350dup, XM_011541144.1:c.*349_*350dup, XM_011541144.1:c.*348_*350dup, XM_011541144.1:c.*343_*350dup, XM_011541148.3:c.*619_*622del, XM_011541148.3:c.*620_*622del, XM_011541148.3:c.*621_*622del, XM_011541148.3:c.*622del, XM_011541148.3:c.*622dup, XM_011541148.3:c.*621_*622dup, XM_011541148.3:c.*620_*622dup, XM_011541148.3:c.*615_*622dup, XM_011541148.2:c.*619_*622del, XM_011541148.2:c.*620_*622del, XM_011541148.2:c.*621_*622del, XM_011541148.2:c.*622del, XM_011541148.2:c.*622dup, XM_011541148.2:c.*621_*622dup, XM_011541148.2:c.*620_*622dup, XM_011541148.2:c.*615_*622dup, XM_011541143.3:c.*347_*350del, XM_011541143.3:c.*348_*350del, XM_011541143.3:c.*349_*350del, XM_011541143.3:c.*350del, XM_011541143.3:c.*350dup, XM_011541143.3:c.*349_*350dup, XM_011541143.3:c.*348_*350dup, XM_011541143.3:c.*343_*350dup, XM_011541143.2:c.*347_*350del, XM_011541143.2:c.*348_*350del, XM_011541143.2:c.*349_*350del, XM_011541143.2:c.*350del, XM_011541143.2:c.*350dup, XM_011541143.2:c.*349_*350dup, XM_011541143.2:c.*348_*350dup, XM_011541143.2:c.*343_*350dup, XM_011541143.1:c.*347_*350del, XM_011541143.1:c.*348_*350del, XM_011541143.1:c.*349_*350del, XM_011541143.1:c.*350del, XM_011541143.1:c.*350dup, XM_011541143.1:c.*349_*350dup, XM_011541143.1:c.*348_*350dup, XM_011541143.1:c.*343_*350dup, NM_001134476.2:c.*347_*350del, NM_001134476.2:c.*348_*350del, NM_001134476.2:c.*349_*350del, NM_001134476.2:c.*350del, NM_001134476.2:c.*350dup, NM_001134476.2:c.*349_*350dup, NM_001134476.2:c.*348_*350dup, NM_001134476.2:c.*343_*350dup, NM_001134476.1:c.*347_*350del, NM_001134476.1:c.*348_*350del, NM_001134476.1:c.*349_*350del, NM_001134476.1:c.*350del, NM_001134476.1:c.*350dup, NM_001134476.1:c.*349_*350dup, NM_001134476.1:c.*348_*350dup, NM_001134476.1:c.*343_*350dup, XM_017000886.2:c.*619_*622del, XM_017000886.2:c.*620_*622del, XM_017000886.2:c.*621_*622del, XM_017000886.2:c.*622del, XM_017000886.2:c.*622dup, XM_017000886.2:c.*621_*622dup, XM_017000886.2:c.*620_*622dup, XM_017000886.2:c.*615_*622dup, XM_017000886.1:c.*619_*622del, XM_017000886.1:c.*620_*622del, XM_017000886.1:c.*621_*622del, XM_017000886.1:c.*622del, XM_017000886.1:c.*622dup, XM_017000886.1:c.*621_*622dup, XM_017000886.1:c.*620_*622dup, XM_017000886.1:c.*615_*622dup, NM_001369819.2:c.*347_*350del, NM_001369819.2:c.*348_*350del, NM_001369819.2:c.*349_*350del, NM_001369819.2:c.*350del, NM_001369819.2:c.*350dup, NM_001369819.2:c.*349_*350dup, NM_001369819.2:c.*348_*350dup, NM_001369819.2:c.*343_*350dup, NM_001369819.1:c.*347_*350del, NM_001369819.1:c.*348_*350del, NM_001369819.1:c.*349_*350del, NM_001369819.1:c.*350del, NM_001369819.1:c.*350dup, NM_001369819.1:c.*349_*350dup, NM_001369819.1:c.*348_*350dup, NM_001369819.1:c.*343_*350dup, NM_001369817.2:c.*347_*350del, NM_001369817.2:c.*348_*350del, NM_001369817.2:c.*349_*350del, NM_001369817.2:c.*350del, NM_001369817.2:c.*350dup, NM_001369817.2:c.*349_*350dup, NM_001369817.2:c.*348_*350dup, NM_001369817.2:c.*343_*350dup, NM_001369817.1:c.*347_*350del, NM_001369817.1:c.*348_*350del, NM_001369817.1:c.*349_*350del, NM_001369817.1:c.*350del, NM_001369817.1:c.*350dup, NM_001369817.1:c.*349_*350dup, NM_001369817.1:c.*348_*350dup, NM_001369817.1:c.*343_*350dup, XM_047416598.1:c.*347_*350del, XM_047416598.1:c.*348_*350del, XM_047416598.1:c.*349_*350del, XM_047416598.1:c.*350del, XM_047416598.1:c.*350dup, XM_047416598.1:c.*349_*350dup, XM_047416598.1:c.*348_*350dup, XM_047416598.1:c.*343_*350dup, XM_047416599.1:c.*347_*350del, XM_047416599.1:c.*348_*350del, XM_047416599.1:c.*349_*350del, XM_047416599.1:c.*350del, XM_047416599.1:c.*350dup, XM_047416599.1:c.*349_*350dup, XM_047416599.1:c.*348_*350dup, XM_047416599.1:c.*343_*350dup, XM_047416600.1:c.*347_*350del, XM_047416600.1:c.*348_*350del, XM_047416600.1:c.*349_*350del, XM_047416600.1:c.*350del, XM_047416600.1:c.*350dup, XM_047416600.1:c.*349_*350dup, XM_047416600.1:c.*348_*350dup, XM_047416600.1:c.*343_*350dup, XM_047416595.1:c.*347_*350del, XM_047416595.1:c.*348_*350del, XM_047416595.1:c.*349_*350del, XM_047416595.1:c.*350del, XM_047416595.1:c.*350dup, XM_047416595.1:c.*349_*350dup, XM_047416595.1:c.*348_*350dup, XM_047416595.1:c.*343_*350dup, XM_047416607.1:c.*619_*622del, XM_047416607.1:c.*620_*622del, XM_047416607.1:c.*621_*622del, XM_047416607.1:c.*622del, XM_047416607.1:c.*622dup, XM_047416607.1:c.*621_*622dup, XM_047416607.1:c.*620_*622dup, XM_047416607.1:c.*615_*622dup, XM_047416596.1:c.*347_*350del, XM_047416596.1:c.*348_*350del, XM_047416596.1:c.*349_*350del, XM_047416596.1:c.*350del, XM_047416596.1:c.*350dup, XM_047416596.1:c.*349_*350dup, XM_047416596.1:c.*348_*350dup, XM_047416596.1:c.*343_*350dup, XM_047416603.1:c.*619_*622del, XM_047416603.1:c.*620_*622del, XM_047416603.1:c.*621_*622del, XM_047416603.1:c.*622del, XM_047416603.1:c.*622dup, XM_047416603.1:c.*621_*622dup, XM_047416603.1:c.*620_*622dup, XM_047416603.1:c.*615_*622dup, XM_047416601.1:c.*619_*622del, XM_047416601.1:c.*620_*622del, XM_047416601.1:c.*621_*622del, XM_047416601.1:c.*622del, XM_047416601.1:c.*622dup, XM_047416601.1:c.*621_*622dup, XM_047416601.1:c.*620_*622dup, XM_047416601.1:c.*615_*622dup, XM_047416605.1:c.*619_*622del, XM_047416605.1:c.*620_*622del, XM_047416605.1:c.*621_*622del, XM_047416605.1:c.*622del, XM_047416605.1:c.*622dup, XM_047416605.1:c.*621_*622dup, XM_047416605.1:c.*620_*622dup, XM_047416605.1:c.*615_*622dup, XM_047416604.1:c.*619_*622del, XM_047416604.1:c.*620_*622del, XM_047416604.1:c.*621_*622del, XM_047416604.1:c.*622del, XM_047416604.1:c.*622dup, XM_047416604.1:c.*621_*622dup, XM_047416604.1:c.*620_*622dup, XM_047416604.1:c.*615_*622dup, XM_047416597.1:c.*347_*350del, XM_047416597.1:c.*348_*350del, XM_047416597.1:c.*349_*350del, XM_047416597.1:c.*350del, XM_047416597.1:c.*350dup, XM_047416597.1:c.*349_*350dup, XM_047416597.1:c.*348_*350dup, XM_047416597.1:c.*343_*350dup

Select item 14912733346.

rs1491273334 has merged into rs5776023 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:89581282 (GRCh38)
1:90046841 (GRCh37)
Canonical SPDI:: NC_000001.11:89581273:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:89581273:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:89581273:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:89581273:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:89581273:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:89581273:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:89581273:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:89581273:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:89581273:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:89581273:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:89581273:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:89581273:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:89581273:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:89581273:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:89581273:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:89581273:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:89581273:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:89581273:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:89581273:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:89581273:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:89581273:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:89581273:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LRRC8B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.89581282_89581297del, NC_000001.11:g.89581283_89581297del, NC_000001.11:g.89581285_89581297del, NC_000001.11:g.89581286_89581297del, NC_000001.11:g.89581287_89581297del, NC_000001.11:g.89581288_89581297del, NC_000001.11:g.89581289_89581297del, NC_000001.11:g.89581290_89581297del, NC_000001.11:g.89581293_89581297del, NC_000001.11:g.89581294_89581297del, NC_000001.11:g.89581295_89581297del, NC_000001.11:g.89581296_89581297del, NC_000001.11:g.89581297del, NC_000001.11:g.89581297dup, NC_000001.11:g.89581296_89581297dup, NC_000001.11:g.89581295_89581297dup, NC_000001.11:g.89581294_89581297dup, NC_000001.11:g.89581293_89581297dup, NC_000001.11:g.89581292_89581297dup, NC_000001.11:g.89581291_89581297dup, NC_000001.11:g.89581282_89581297dup, NC_000001.11:g.89581277_89581297dup, NC_000001.10:g.90046841_90046856del, NC_000001.10:g.90046842_90046856del, NC_000001.10:g.90046844_90046856del, NC_000001.10:g.90046845_90046856del, NC_000001.10:g.90046846_90046856del, NC_000001.10:g.90046847_90046856del, NC_000001.10:g.90046848_90046856del, NC_000001.10:g.90046849_90046856del, NC_000001.10:g.90046852_90046856del, NC_000001.10:g.90046853_90046856del, NC_000001.10:g.90046854_90046856del, NC_000001.10:g.90046855_90046856del, NC_000001.10:g.90046856del, NC_000001.10:g.90046856dup, NC_000001.10:g.90046855_90046856dup, NC_000001.10:g.90046854_90046856dup, NC_000001.10:g.90046853_90046856dup, NC_000001.10:g.90046852_90046856dup, NC_000001.10:g.90046851_90046856dup, NC_000001.10:g.90046850_90046856dup, NC_000001.10:g.90046841_90046856dup, NC_000001.10:g.90046836_90046856dup

Select item 14911443917.

rs1491144391 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACACACATA,CATA [Show Flanks]
Chromosome:: 1:89559651 (GRCh38)
1:90025211 (GRCh37)
Canonical SPDI:: NC_000001.11:89559651:A:ACACACACATA,NC_000001.11:89559651:A:ACATA
Gene:: LRRC8B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACATA=0./0 (ALFA)
ACAT=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.89559652AC[4]ATA[1], NC_000001.11:g.89559652_89559653insCATA, NC_000001.10:g.90025211AC[4]ATA[1], NC_000001.10:g.90025211_90025212insCATA

Select item 14910261298.

rs1491026129 has merged into rs35027182 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:89589570 (GRCh38)
1:90055129 (GRCh37)
Canonical SPDI:: NC_000001.11:89589558:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:89589558:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:89589558:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:89589558:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:89589558:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:89589558:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:89589558:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LRRC8B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.4884/2446 (1000Genomes)
HGVS:: NC_000001.11:g.89589570_89589572del, NC_000001.11:g.89589571_89589572del, NC_000001.11:g.89589572del, NC_000001.11:g.89589572dup, NC_000001.11:g.89589571_89589572dup, NC_000001.11:g.89589569_89589572dup, NC_000001.11:g.89589562_89589572dup, NC_000001.10:g.90055129_90055131del, NC_000001.10:g.90055130_90055131del, NC_000001.10:g.90055131del, NC_000001.10:g.90055131dup, NC_000001.10:g.90055130_90055131dup, NC_000001.10:g.90055128_90055131dup, NC_000001.10:g.90055121_90055131dup

Select item 14909977729.

rs1490997772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:89582900 (GRCh38)
1:90048459 (GRCh37)
Canonical SPDI:: NC_000001.11:89582899:G:A,NC_000001.11:89582899:G:T
Gene:: LRRC8B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.89582900G>A, NC_000001.11:g.89582900G>T, NC_000001.10:g.90048459G>A, NC_000001.10:g.90048459G>T, XM_005270703.6:c.250G>A, XM_005270703.6:c.250G>T, XM_005270703.5:c.250G>A, XM_005270703.5:c.250G>T, XM_005270703.4:c.250G>A, XM_005270703.4:c.250G>T, XM_005270703.3:c.250G>A, XM_005270703.3:c.250G>T, XM_005270703.2:c.250G>A, XM_005270703.2:c.250G>T, XM_005270703.1:c.250G>A, XM_005270703.1:c.250G>T, NM_015350.4:c.250G>A, NM_015350.4:c.250G>T, NM_015350.3:c.250G>A, NM_015350.3:c.250G>T, NM_015350.2:c.250G>A, NM_015350.2:c.250G>T, XM_011541146.4:c.250G>A, XM_011541146.4:c.250G>T, XM_011541146.3:c.250G>A, XM_011541146.3:c.250G>T, XM_011541146.2:c.250G>A, XM_011541146.2:c.250G>T, XM_011541146.1:c.250G>A, XM_011541146.1:c.250G>T, XM_011541144.3:c.250G>A, XM_011541144.3:c.250G>T, XM_011541144.2:c.250G>A, XM_011541144.2:c.250G>T, XM_011541144.1:c.250G>A, XM_011541144.1:c.250G>T, XM_011541148.3:c.250G>A, XM_011541148.3:c.250G>T, XM_011541148.2:c.250G>A, XM_011541148.2:c.250G>T, XM_011541148.1:c.250G>A, XM_011541148.1:c.250G>T, XM_011541143.3:c.250G>A, XM_011541143.3:c.250G>T, XM_011541143.2:c.250G>A, XM_011541143.2:c.250G>T, XM_011541143.1:c.250G>A, XM_011541143.1:c.250G>T, NM_001134476.2:c.250G>A, NM_001134476.2:c.250G>T, NM_001134476.1:c.250G>A, NM_001134476.1:c.250G>T, XM_017000886.2:c.250G>A, XM_017000886.2:c.250G>T, XM_017000886.1:c.250G>A, XM_017000886.1:c.250G>T, NM_001369819.2:c.250G>A, NM_001369819.2:c.250G>T, NM_001369819.1:c.250G>A, NM_001369819.1:c.250G>T, NM_001369817.2:c.250G>A, NM_001369817.2:c.250G>T, NM_001369817.1:c.250G>A, NM_001369817.1:c.250G>T, XM_047416598.1:c.250G>A, XM_047416598.1:c.250G>T, XM_047416599.1:c.250G>A, XM_047416599.1:c.250G>T, XM_047416600.1:c.250G>A, XM_047416600.1:c.250G>T, XM_047416595.1:c.250G>A, XM_047416595.1:c.250G>T, XM_047416607.1:c.250G>A, XM_047416607.1:c.250G>T, XM_047416596.1:c.250G>A, XM_047416596.1:c.250G>T, XM_047416603.1:c.250G>A, XM_047416603.1:c.250G>T, XM_047416601.1:c.250G>A, XM_047416601.1:c.250G>T, XM_047416605.1:c.250G>A, XM_047416605.1:c.250G>T, XM_047416604.1:c.250G>A, XM_047416604.1:c.250G>T, XM_047416597.1:c.250G>A, XM_047416597.1:c.250G>T, XP_005270760.1:p.Gly84Arg, XP_005270760.1:p.Gly84Trp, NP_056165.1:p.Gly84Arg, NP_056165.1:p.Gly84Trp, XP_011539448.1:p.Gly84Arg, XP_011539448.1:p.Gly84Trp, XP_011539446.1:p.Gly84Arg, XP_011539446.1:p.Gly84Trp, XP_011539450.1:p.Gly84Arg, XP_011539450.1:p.Gly84Trp, XP_011539445.1:p.Gly84Arg, XP_011539445.1:p.Gly84Trp, NP_001127948.1:p.Gly84Arg, NP_001127948.1:p.Gly84Trp, XP_016856375.1:p.Gly84Arg, XP_016856375.1:p.Gly84Trp, NP_001356748.1:p.Gly84Arg, NP_001356748.1:p.Gly84Trp, NP_001356746.1:p.Gly84Arg, NP_001356746.1:p.Gly84Trp, XP_047272554.1:p.Gly84Arg, XP_047272554.1:p.Gly84Trp, XP_047272555.1:p.Gly84Arg, XP_047272555.1:p.Gly84Trp, XP_047272556.1:p.Gly84Arg, XP_047272556.1:p.Gly84Trp, XP_047272551.1:p.Gly84Arg, XP_047272551.1:p.Gly84Trp, XP_047272563.1:p.Gly84Arg, XP_047272563.1:p.Gly84Trp, XP_047272552.1:p.Gly84Arg, XP_047272552.1:p.Gly84Trp, XP_047272559.1:p.Gly84Arg, XP_047272559.1:p.Gly84Trp, XP_047272557.1:p.Gly84Arg, XP_047272557.1:p.Gly84Trp, XP_047272561.1:p.Gly84Arg, XP_047272561.1:p.Gly84Trp, XP_047272560.1:p.Gly84Arg, XP_047272560.1:p.Gly84Trp, XP_047272553.1:p.Gly84Arg, XP_047272553.1:p.Gly84Trp

Select item 149098611210.

rs1490986112 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:89585507 (GRCh38)
1:90051066 (GRCh37)
Canonical SPDI:: NC_000001.11:89585506:T:C
Gene:: LRRC8B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000086/12 (GnomAD)
HGVS:: NC_000001.11:g.89585507T>C, NC_000001.10:g.90051066T>C

Select item 149093011811.

rs1490930118 [Homo sapiens]

Variant type:: DELINS
Alleles:: CATGTCA>- [Show Flanks]
Chromosome:: 1:89580439 (GRCh38)
1:90045998 (GRCh37)
Canonical SPDI:: NC_000001.11:89580437:ACATGTCA:A
Gene:: LRRC8B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.89580439_89580445del, NC_000001.10:g.90045998_90046004del

Select item 149090150312.

rs1490901503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:89544913 (GRCh38)
1:90010472 (GRCh37)
Canonical SPDI:: NC_000001.11:89544912:G:A
Gene:: LRRC8B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.89544913G>A, NC_000001.10:g.90010472G>A

Select item 149089883713.

rs1490898837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:89545995 (GRCh38)
1:90011554 (GRCh37)
Canonical SPDI:: NC_000001.11:89545994:G:T
Gene:: LRRC8B (Varview), LOC124904216 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.89545995G>T, NC_000001.10:g.90011554G>T

Select item 149088413814.

rs1490884138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:89531138 (GRCh38)
1:89996697 (GRCh37)
Canonical SPDI:: NC_000001.11:89531137:C:G,NC_000001.11:89531137:C:T
Gene:: LRRC8B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.89531138C>G, NC_000001.11:g.89531138C>T, NC_000001.10:g.89996697C>G, NC_000001.10:g.89996697C>T

Select item 149084093715.

rs1490840937 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:89547289 (GRCh38)
1:90012848 (GRCh37)
Canonical SPDI:: NC_000001.11:89547288:A:G
Gene:: LRRC8B (Varview), LOC124904216 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.89547289A>G, NC_000001.10:g.90012848A>G

Select item 149079378316.

rs1490793783 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:89539536 (GRCh38)
1:90005095 (GRCh37)
Canonical SPDI:: NC_000001.11:89539535:A:G
Gene:: LRRC8B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.89539536A>G, NC_000001.10:g.90005095A>G

Select item 149066197817.

rs1490661978 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:89590111 (GRCh38)
1:90055670 (GRCh37)
Canonical SPDI:: NC_000001.11:89590110:T:C
Gene:: LRRC8B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.89590111T>C, NC_000001.10:g.90055670T>C

Select item 149056194718.

rs1490561947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:89561445 (GRCh38)
1:90027004 (GRCh37)
Canonical SPDI:: NC_000001.11:89561444:G:C
Gene:: LRRC8B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.89561445G>C, NC_000001.10:g.90027004G>C

Select item 149054793919.

rs1490547939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:89571577 (GRCh38)
1:90037136 (GRCh37)
Canonical SPDI:: NC_000001.11:89571576:C:T
Gene:: LRRC8B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.89571577C>T, NC_000001.10:g.90037136C>T

Select item 149053262820.

rs1490532628 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:89572877 (GRCh38)
1:90038436 (GRCh37)
Canonical SPDI:: NC_000001.11:89572876:T:C
Gene:: LRRC8B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.89572877T>C, NC_000001.10:g.90038436T>C

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