SNP Links for Gene (Select 55909) - SNP

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Select item 14915625101.

rs1491562510 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:22645165 (GRCh38)
8:22502678 (GRCh37)
Canonical SPDI:: NC_000008.11:22645164:CA:
Gene:: BIN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.22645165_22645166del, NC_000008.10:g.22502678_22502679del

Select item 14914547102.

rs1491454710 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 8:22648943 (GRCh38)
8:22506457 (GRCh37)
Canonical SPDI:: NC_000008.11:22648943:T:TAT
Gene:: BIN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: TA=0.000122/17 (GnomAD)
TA=0.001787/8 (Estonian)
HGVS:: NC_000008.11:g.22648944_22648945insAT, NC_000008.10:g.22506457_22506458insAT

Select item 14913947613.

rs1491394761 has merged into rs3220194 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTG>-,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 8:22663219 (GRCh38)
8:22520732 (GRCh37)
Canonical SPDI:: NC_000008.11:22663207:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTG,NC_000008.11:22663207:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000008.11:22663207:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000008.11:22663207:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000008.11:22663207:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000008.11:22663207:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:22663207:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:22663207:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:22663207:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:22663207:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:22663207:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: BIN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTG=0./0 (ALFA)
-=0.0025/4 (1000Genomes)
HGVS:: NC_000008.11:g.22663209TG[5], NC_000008.11:g.22663209TG[7], NC_000008.11:g.22663209TG[8], NC_000008.11:g.22663209TG[9], NC_000008.11:g.22663209TG[10], NC_000008.11:g.22663209TG[12], NC_000008.11:g.22663209TG[13], NC_000008.11:g.22663209TG[14], NC_000008.11:g.22663209TG[15], NC_000008.11:g.22663209TG[16], NC_000008.11:g.22663209TG[18], NC_000008.10:g.22520722TG[5], NC_000008.10:g.22520722TG[7], NC_000008.10:g.22520722TG[8], NC_000008.10:g.22520722TG[9], NC_000008.10:g.22520722TG[10], NC_000008.10:g.22520722TG[12], NC_000008.10:g.22520722TG[13], NC_000008.10:g.22520722TG[14], NC_000008.10:g.22520722TG[15], NC_000008.10:g.22520722TG[16], NC_000008.10:g.22520722TG[18]

Select item 14913104694.

rs1491310469 [Homo sapiens]

Variant type:: INS
Alleles:: ->GT [Show Flanks]
Chromosome:: 8:22663220 (GRCh38)
8:22520734 (GRCh37)
Canonical SPDI:: NC_000008.11:22663220::GT
Gene:: BIN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000008.11:g.22663220_22663221insGT, NC_000008.10:g.22520733_22520734insGT

Select item 14912898165.

rs1491289816 has merged into rs60062081 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:22620426 (GRCh38)
8:22477939 (GRCh37)
Canonical SPDI:: NC_000008.11:22620417:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000008.11:22620417:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:22620417:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:22620417:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:22620417:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:22620417:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:22620417:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:22620417:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:22620417:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:22620417:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:22620417:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:22620417:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:22620417:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22620417:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22620417:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22620417:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22620417:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BIN3 (Varview), CCAR2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.124/621 (1000Genomes)
HGVS:: NC_000008.11:g.22620426_22620435del, NC_000008.11:g.22620427_22620435del, NC_000008.11:g.22620428_22620435del, NC_000008.11:g.22620429_22620435del, NC_000008.11:g.22620430_22620435del, NC_000008.11:g.22620431_22620435del, NC_000008.11:g.22620432_22620435del, NC_000008.11:g.22620433_22620435del, NC_000008.11:g.22620434_22620435del, NC_000008.11:g.22620435del, NC_000008.11:g.22620435dup, NC_000008.11:g.22620434_22620435dup, NC_000008.11:g.22620433_22620435dup, NC_000008.11:g.22620432_22620435dup, NC_000008.11:g.22620431_22620435dup, NC_000008.11:g.22620430_22620435dup, NC_000008.11:g.22620429_22620435dup, NC_000008.10:g.22477939_22477948del, NC_000008.10:g.22477940_22477948del, NC_000008.10:g.22477941_22477948del, NC_000008.10:g.22477942_22477948del, NC_000008.10:g.22477943_22477948del, NC_000008.10:g.22477944_22477948del, NC_000008.10:g.22477945_22477948del, NC_000008.10:g.22477946_22477948del, NC_000008.10:g.22477947_22477948del, NC_000008.10:g.22477948del, NC_000008.10:g.22477948dup, NC_000008.10:g.22477947_22477948dup, NC_000008.10:g.22477946_22477948dup, NC_000008.10:g.22477945_22477948dup, NC_000008.10:g.22477944_22477948dup, NC_000008.10:g.22477943_22477948dup, NC_000008.10:g.22477942_22477948dup, NM_021174.6:c.*744_*753del, NM_021174.6:c.*745_*753del, NM_021174.6:c.*746_*753del, NM_021174.6:c.*747_*753del, NM_021174.6:c.*748_*753del, NM_021174.6:c.*749_*753del, NM_021174.6:c.*750_*753del, NM_021174.6:c.*751_*753del, NM_021174.6:c.*752_*753del, NM_021174.6:c.*753del, NM_021174.6:c.*753dup, NM_021174.6:c.*752_*753dup, NM_021174.6:c.*751_*753dup, NM_021174.6:c.*750_*753dup, NM_021174.6:c.*749_*753dup, NM_021174.6:c.*748_*753dup, NM_021174.6:c.*747_*753dup, NM_021174.5:c.*744_*753del, NM_021174.5:c.*745_*753del, NM_021174.5:c.*746_*753del, NM_021174.5:c.*747_*753del, NM_021174.5:c.*748_*753del, NM_021174.5:c.*749_*753del, NM_021174.5:c.*750_*753del, NM_021174.5:c.*751_*753del, NM_021174.5:c.*752_*753del, NM_021174.5:c.*753del, NM_021174.5:c.*753dup, NM_021174.5:c.*752_*753dup, NM_021174.5:c.*751_*753dup, NM_021174.5:c.*750_*753dup, NM_021174.5:c.*749_*753dup, NM_021174.5:c.*748_*753dup, NM_021174.5:c.*747_*753dup, NM_018688.6:c.*995_*1004del, NM_018688.6:c.*996_*1004del, NM_018688.6:c.*997_*1004del, NM_018688.6:c.*998_*1004del, NM_018688.6:c.*999_*1004del, NM_018688.6:c.*1000_*1004del, NM_018688.6:c.*1001_*1004del, NM_018688.6:c.*1002_*1004del, NM_018688.6:c.*1003_*1004del, NM_018688.6:c.*1004del, NM_018688.6:c.*1004dup, NM_018688.6:c.*1003_*1004dup, NM_018688.6:c.*1002_*1004dup, NM_018688.6:c.*1001_*1004dup, NM_018688.6:c.*1000_*1004dup, NM_018688.6:c.*999_*1004dup, NM_018688.6:c.*998_*1004dup, NM_018688.4:c.*995_*1004del, NM_018688.4:c.*996_*1004del, NM_018688.4:c.*997_*1004del, NM_018688.4:c.*998_*1004del, NM_018688.4:c.*999_*1004del, NM_018688.4:c.*1000_*1004del, NM_018688.4:c.*1001_*1004del, NM_018688.4:c.*1002_*1004del, NM_018688.4:c.*1003_*1004del, NM_018688.4:c.*1004del, NM_018688.4:c.*1004dup, NM_018688.4:c.*1003_*1004dup, NM_018688.4:c.*1002_*1004dup, NM_018688.4:c.*1001_*1004dup, NM_018688.4:c.*1000_*1004dup, NM_018688.4:c.*999_*1004dup, NM_018688.4:c.*998_*1004dup, XM_011544604.3:c.*744_*753del, XM_011544604.3:c.*745_*753del, XM_011544604.3:c.*746_*753del, XM_011544604.3:c.*747_*753del, XM_011544604.3:c.*748_*753del, XM_011544604.3:c.*749_*753del, XM_011544604.3:c.*750_*753del, XM_011544604.3:c.*751_*753del, XM_011544604.3:c.*752_*753del, XM_011544604.3:c.*753del, XM_011544604.3:c.*753dup, XM_011544604.3:c.*752_*753dup, XM_011544604.3:c.*751_*753dup, XM_011544604.3:c.*750_*753dup, XM_011544604.3:c.*749_*753dup, XM_011544604.3:c.*748_*753dup, XM_011544604.3:c.*747_*753dup, XM_011544604.2:c.*744_*753del, XM_011544604.2:c.*745_*753del, XM_011544604.2:c.*746_*753del, XM_011544604.2:c.*747_*753del, XM_011544604.2:c.*748_*753del, XM_011544604.2:c.*749_*753del, XM_011544604.2:c.*750_*753del, XM_011544604.2:c.*751_*753del, XM_011544604.2:c.*752_*753del, XM_011544604.2:c.*753del, XM_011544604.2:c.*753dup, XM_011544604.2:c.*752_*753dup, XM_011544604.2:c.*751_*753dup, XM_011544604.2:c.*750_*753dup, XM_011544604.2:c.*749_*753dup, XM_011544604.2:c.*748_*753dup, XM_011544604.2:c.*747_*753dup, XM_011544604.1:c.*744_*753del, XM_011544604.1:c.*745_*753del, XM_011544604.1:c.*746_*753del, XM_011544604.1:c.*747_*753del, XM_011544604.1:c.*748_*753del, XM_011544604.1:c.*749_*753del, XM_011544604.1:c.*750_*753del, XM_011544604.1:c.*751_*753del, XM_011544604.1:c.*752_*753del, XM_011544604.1:c.*753del, XM_011544604.1:c.*753dup, XM_011544604.1:c.*752_*753dup, XM_011544604.1:c.*751_*753dup, XM_011544604.1:c.*750_*753dup, XM_011544604.1:c.*749_*753dup, XM_011544604.1:c.*748_*753dup, XM_011544604.1:c.*747_*753dup, NM_001363068.2:c.*744_*753del, NM_001363068.2:c.*745_*753del, NM_001363068.2:c.*746_*753del, NM_001363068.2:c.*747_*753del, NM_001363068.2:c.*748_*753del, NM_001363068.2:c.*749_*753del, NM_001363068.2:c.*750_*753del, NM_001363068.2:c.*751_*753del, NM_001363068.2:c.*752_*753del, NM_001363068.2:c.*753del, NM_001363068.2:c.*753dup, NM_001363068.2:c.*752_*753dup, NM_001363068.2:c.*751_*753dup, NM_001363068.2:c.*750_*753dup, NM_001363068.2:c.*749_*753dup, NM_001363068.2:c.*748_*753dup, NM_001363068.2:c.*747_*753dup, NM_001363068.1:c.*744_*753del, NM_001363068.1:c.*745_*753del, NM_001363068.1:c.*746_*753del, NM_001363068.1:c.*747_*753del, NM_001363068.1:c.*748_*753del, NM_001363068.1:c.*749_*753del, NM_001363068.1:c.*750_*753del, NM_001363068.1:c.*751_*753del, NM_001363068.1:c.*752_*753del, NM_001363068.1:c.*753del, NM_001363068.1:c.*753dup, NM_001363068.1:c.*752_*753dup, NM_001363068.1:c.*751_*753dup, NM_001363068.1:c.*750_*753dup, NM_001363068.1:c.*749_*753dup, NM_001363068.1:c.*748_*753dup, NM_001363068.1:c.*747_*753dup, NR_033902.2:n.3640_3649del, NR_033902.2:n.3641_3649del, NR_033902.2:n.3642_3649del, NR_033902.2:n.3643_3649del, NR_033902.2:n.3644_3649del, NR_033902.2:n.3645_3649del, NR_033902.2:n.3646_3649del, NR_033902.2:n.3647_3649del, NR_033902.2:n.3648_3649del, NR_033902.2:n.3649del, NR_033902.2:n.3649dup, NR_033902.2:n.3648_3649dup, NR_033902.2:n.3647_3649dup, NR_033902.2:n.3646_3649dup, NR_033902.2:n.3645_3649dup, NR_033902.2:n.3644_3649dup, NR_033902.2:n.3643_3649dup, NM_001363069.2:c.*744_*753del, NM_001363069.2:c.*745_*753del, NM_001363069.2:c.*746_*753del, NM_001363069.2:c.*747_*753del, NM_001363069.2:c.*748_*753del, NM_001363069.2:c.*749_*753del, NM_001363069.2:c.*750_*753del, NM_001363069.2:c.*751_*753del, NM_001363069.2:c.*752_*753del, NM_001363069.2:c.*753del, NM_001363069.2:c.*753dup, NM_001363069.2:c.*752_*753dup, NM_001363069.2:c.*751_*753dup, NM_001363069.2:c.*750_*753dup, NM_001363069.2:c.*749_*753dup, NM_001363069.2:c.*748_*753dup, NM_001363069.2:c.*747_*753dup, NM_001363069.1:c.*744_*753del, NM_001363069.1:c.*745_*753del, NM_001363069.1:c.*746_*753del, NM_001363069.1:c.*747_*753del, NM_001363069.1:c.*748_*753del, NM_001363069.1:c.*749_*753del, NM_001363069.1:c.*750_*753del, NM_001363069.1:c.*751_*753del, NM_001363069.1:c.*752_*753del, NM_001363069.1:c.*753del, NM_001363069.1:c.*753dup, NM_001363069.1:c.*752_*753dup, NM_001363069.1:c.*751_*753dup, NM_001363069.1:c.*750_*753dup, NM_001363069.1:c.*749_*753dup, NM_001363069.1:c.*748_*753dup, NM_001363069.1:c.*747_*753dup, NR_156436.2:n.1984_1993del, NR_156436.2:n.1985_1993del, NR_156436.2:n.1986_1993del, NR_156436.2:n.1987_1993del, NR_156436.2:n.1988_1993del, NR_156436.2:n.1989_1993del, NR_156436.2:n.1990_1993del, NR_156436.2:n.1991_1993del, NR_156436.2:n.1992_1993del, NR_156436.2:n.1993del, NR_156436.2:n.1993dup, NR_156436.2:n.1992_1993dup, NR_156436.2:n.1991_1993dup, NR_156436.2:n.1990_1993dup, NR_156436.2:n.1989_1993dup, NR_156436.2:n.1988_1993dup, NR_156436.2:n.1987_1993dup, NM_001363046.2:c.*995_*1004del, NM_001363046.2:c.*996_*1004del, NM_001363046.2:c.*997_*1004del, NM_001363046.2:c.*998_*1004del, NM_001363046.2:c.*999_*1004del, NM_001363046.2:c.*1000_*1004del, NM_001363046.2:c.*1001_*1004del, NM_001363046.2:c.*1002_*1004del, NM_001363046.2:c.*1003_*1004del, NM_001363046.2:c.*1004del, NM_001363046.2:c.*1004dup, NM_001363046.2:c.*1003_*1004dup, NM_001363046.2:c.*1002_*1004dup, NM_001363046.2:c.*1001_*1004dup, NM_001363046.2:c.*1000_*1004dup, NM_001363046.2:c.*999_*1004dup, NM_001363046.2:c.*998_*1004dup, NR_033902.1:n.3765_3774del, NR_033902.1:n.3766_3774del, NR_033902.1:n.3767_3774del, NR_033902.1:n.3768_3774del, NR_033902.1:n.3769_3774del, NR_033902.1:n.3770_3774del, NR_033902.1:n.3771_3774del, NR_033902.1:n.3772_3774del, NR_033902.1:n.3773_3774del, NR_033902.1:n.3774del, NR_033902.1:n.3774dup, NR_033902.1:n.3773_3774dup, NR_033902.1:n.3772_3774dup, NR_033902.1:n.3771_3774dup, NR_033902.1:n.3770_3774dup, NR_033902.1:n.3769_3774dup, NR_033902.1:n.3768_3774dup, XM_047421995.1:c.*995_*1004del, XM_047421995.1:c.*996_*1004del, XM_047421995.1:c.*997_*1004del, XM_047421995.1:c.*998_*1004del, XM_047421995.1:c.*999_*1004del, XM_047421995.1:c.*1000_*1004del, XM_047421995.1:c.*1001_*1004del, XM_047421995.1:c.*1002_*1004del, XM_047421995.1:c.*1003_*1004del, XM_047421995.1:c.*1004del, XM_047421995.1:c.*1004dup, XM_047421995.1:c.*1003_*1004dup, XM_047421995.1:c.*1002_*1004dup, XM_047421995.1:c.*1001_*1004dup, XM_047421995.1:c.*1000_*1004dup, XM_047421995.1:c.*999_*1004dup, XM_047421995.1:c.*998_*1004dup, NM_199205.1:c.*744_*753del, NM_199205.1:c.*745_*753del, NM_199205.1:c.*746_*753del, NM_199205.1:c.*747_*753del, NM_199205.1:c.*748_*753del, NM_199205.1:c.*749_*753del, NM_199205.1:c.*750_*753del, NM_199205.1:c.*751_*753del, NM_199205.1:c.*752_*753del, NM_199205.1:c.*753del, NM_199205.1:c.*753dup, NM_199205.1:c.*752_*753dup, NM_199205.1:c.*751_*753dup, NM_199205.1:c.*750_*753dup, NM_199205.1:c.*749_*753dup, NM_199205.1:c.*748_*753dup, NM_199205.1:c.*747_*753dup, NM_001393997.1:c.*744_*753del, NM_001393997.1:c.*745_*753del, NM_001393997.1:c.*746_*753del, NM_001393997.1:c.*747_*753del, NM_001393997.1:c.*748_*753del, NM_001393997.1:c.*749_*753del, NM_001393997.1:c.*750_*753del, NM_001393997.1:c.*751_*753del, NM_001393997.1:c.*752_*753del, NM_001393997.1:c.*753del, NM_001393997.1:c.*753dup, NM_001393997.1:c.*752_*753dup, NM_001393997.1:c.*751_*753dup, NM_001393997.1:c.*750_*753dup, NM_001393997.1:c.*749_*753dup, NM_001393997.1:c.*748_*753dup, NM_001393997.1:c.*747_*753dup

Select item 14911811886.

rs1491181188 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 8:22635358 (GRCh38)
8:22492871 (GRCh37)
Canonical SPDI:: NC_000008.11:22635354:GAGAG:GAG
Gene:: BIN3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAG=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.22635356AG[1], NC_000008.10:g.22492869AG[1], XM_047421995.1:c.-948TC[1]

Select item 14911580927.

rs1491158092 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:22635355 (GRCh38)
8:22492869 (GRCh37)
Canonical SPDI:: NC_000008.11:22635355:A:AA
Gene:: BIN3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.22635356dup, NC_000008.10:g.22492869dup, XM_047421995.1:c.-946dup

Select item 14911292368.

rs1491129236 has merged into rs765863433 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,C,CC,CCC,CCCCCC [Show Flanks]
Chromosome:: 8:22649859 (GRCh38)
8:22507372 (GRCh37)
Canonical SPDI:: NC_000008.11:22649857:CCCCC:C,NC_000008.11:22649857:CCCCC:CC,NC_000008.11:22649857:CCCCC:CCC,NC_000008.11:22649857:CCCCC:CCCC,NC_000008.11:22649857:CCCCC:CCCCCCC
Gene:: BIN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
-=0.00052/2 (ALSPAC)
-=0.01672/10 (NorthernSweden)
-=0.08762/1465 (TOMMO)
CC=0.125/626 (1000Genomes)
-=0.13497/247 (Korea1K)
HGVS:: NC_000008.11:g.22649859_22649862del, NC_000008.11:g.22649860_22649862del, NC_000008.11:g.22649861_22649862del, NC_000008.11:g.22649862del, NC_000008.11:g.22649861_22649862dup, NC_000008.10:g.22507372_22507375del, NC_000008.10:g.22507373_22507375del, NC_000008.10:g.22507374_22507375del, NC_000008.10:g.22507375del, NC_000008.10:g.22507374_22507375dup

Select item 14910946069.

rs1491094606 has merged into rs61368703 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 8:22645179 (GRCh38)
8:22502692 (GRCh37)
Canonical SPDI:: NC_000008.11:22645165:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:22645165:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:22645165:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:22645165:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:22645165:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:22645165:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:22645165:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: BIN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.22645179_22645182del, NC_000008.11:g.22645180_22645182del, NC_000008.11:g.22645181_22645182del, NC_000008.11:g.22645182del, NC_000008.11:g.22645182dup, NC_000008.11:g.22645181_22645182dup, NC_000008.11:g.22645177_22645182dup, NC_000008.10:g.22502692_22502695del, NC_000008.10:g.22502693_22502695del, NC_000008.10:g.22502694_22502695del, NC_000008.10:g.22502695del, NC_000008.10:g.22502695dup, NC_000008.10:g.22502694_22502695dup, NC_000008.10:g.22502690_22502695dup

Select item 149106277510.

rs1491062775 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA [Show Flanks]
Chromosome:: 8:22649860 (GRCh38)
8:22507374 (GRCh37)
Canonical SPDI:: NC_000008.11:22649860::AA
Gene:: BIN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
AA=0.00001/1 (GnomAD)
HGVS:: NC_000008.11:g.22649860_22649861insAA, NC_000008.10:g.22507373_22507374insAA

Select item 149104393511.

rs1491043935 has merged into rs35335976 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 8:22651998 (GRCh38)
8:22509511 (GRCh37)
Canonical SPDI:: NC_000008.11:22651987:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:22651987:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:22651987:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:22651987:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:22651987:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:22651987:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:22651987:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: BIN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.13311/78 (NorthernSweden)
T=0.27736/1389 (1000Genomes)
T=0.30259/1122 (TWINSUK)
T=0.31214/1203 (ALSPAC)
T=0.4/16 (GENOME_DK)
HGVS:: NC_000008.11:g.22651998_22652001del, NC_000008.11:g.22651999_22652001del, NC_000008.11:g.22652000_22652001del, NC_000008.11:g.22652001del, NC_000008.11:g.22652001dup, NC_000008.11:g.22652000_22652001dup, NC_000008.11:g.22651999_22652001dup, NC_000008.10:g.22509511_22509514del, NC_000008.10:g.22509512_22509514del, NC_000008.10:g.22509513_22509514del, NC_000008.10:g.22509514del, NC_000008.10:g.22509514dup, NC_000008.10:g.22509513_22509514dup, NC_000008.10:g.22509512_22509514dup

Select item 149103806312.

rs1491038063 has merged into rs71206533 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:22656234 (GRCh38)
8:22513747 (GRCh37)
Canonical SPDI:: NC_000008.11:22656223:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:22656223:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:22656223:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:22656223:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:22656223:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:22656223:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:22656223:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:22656223:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:22656223:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:22656223:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22656223:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTT
Gene:: BIN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.4659/2333 (1000Genomes)
HGVS:: NC_000008.11:g.22656234_22656239del, NC_000008.11:g.22656236_22656239del, NC_000008.11:g.22656237_22656239del, NC_000008.11:g.22656238_22656239del, NC_000008.11:g.22656239del, NC_000008.11:g.22656239dup, NC_000008.11:g.22656238_22656239dup, NC_000008.11:g.22656237_22656239dup, NC_000008.11:g.22656236_22656239dup, NC_000008.11:g.22656234_22656239dup, NC_000008.11:g.22656224_22656239T[35]ATTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.22513747_22513752del, NC_000008.10:g.22513749_22513752del, NC_000008.10:g.22513750_22513752del, NC_000008.10:g.22513751_22513752del, NC_000008.10:g.22513752del, NC_000008.10:g.22513752dup, NC_000008.10:g.22513751_22513752dup, NC_000008.10:g.22513750_22513752dup, NC_000008.10:g.22513749_22513752dup, NC_000008.10:g.22513747_22513752dup, NC_000008.10:g.22513737_22513752T[35]ATTTTTTTTTTTTTTTTTTTTTT[1]

Select item 149103004913.

rs1491030049 has merged into rs35060338 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:22663447 (GRCh38)
8:22520960 (GRCh37)
Canonical SPDI:: NC_000008.11:22663440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000008.11:22663440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:22663440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:22663440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:22663440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:22663440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:22663440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:22663440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:22663440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:22663440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:22663440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:22663440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:22663440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:22663440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22663440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22663440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22663440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22663440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22663440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BIN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.3129/1567 (1000Genomes)
HGVS:: NC_000008.11:g.22663447_22663462del, NC_000008.11:g.22663450_22663462del, NC_000008.11:g.22663451_22663462del, NC_000008.11:g.22663452_22663462del, NC_000008.11:g.22663453_22663462del, NC_000008.11:g.22663454_22663462del, NC_000008.11:g.22663455_22663462del, NC_000008.11:g.22663456_22663462del, NC_000008.11:g.22663457_22663462del, NC_000008.11:g.22663458_22663462del, NC_000008.11:g.22663459_22663462del, NC_000008.11:g.22663460_22663462del, NC_000008.11:g.22663461_22663462del, NC_000008.11:g.22663462del, NC_000008.11:g.22663462dup, NC_000008.11:g.22663461_22663462dup, NC_000008.11:g.22663460_22663462dup, NC_000008.11:g.22663459_22663462dup, NC_000008.11:g.22663458_22663462dup, NC_000008.10:g.22520960_22520975del, NC_000008.10:g.22520963_22520975del, NC_000008.10:g.22520964_22520975del, NC_000008.10:g.22520965_22520975del, NC_000008.10:g.22520966_22520975del, NC_000008.10:g.22520967_22520975del, NC_000008.10:g.22520968_22520975del, NC_000008.10:g.22520969_22520975del, NC_000008.10:g.22520970_22520975del, NC_000008.10:g.22520971_22520975del, NC_000008.10:g.22520972_22520975del, NC_000008.10:g.22520973_22520975del, NC_000008.10:g.22520974_22520975del, NC_000008.10:g.22520975del, NC_000008.10:g.22520975dup, NC_000008.10:g.22520974_22520975dup, NC_000008.10:g.22520973_22520975dup, NC_000008.10:g.22520972_22520975dup, NC_000008.10:g.22520971_22520975dup

Select item 149102679214.

rs1491026792 has merged into rs765863433 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,C,CC,CCC,CCCCCC [Show Flanks]
Chromosome:: 8:22649859 (GRCh38)
8:22507372 (GRCh37)
Canonical SPDI:: NC_000008.11:22649857:CCCCC:C,NC_000008.11:22649857:CCCCC:CC,NC_000008.11:22649857:CCCCC:CCC,NC_000008.11:22649857:CCCCC:CCCC,NC_000008.11:22649857:CCCCC:CCCCCCC
Gene:: BIN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
-=0.00052/2 (ALSPAC)
-=0.01672/10 (NorthernSweden)
-=0.08762/1465 (TOMMO)
CC=0.125/626 (1000Genomes)
-=0.13497/247 (Korea1K)
HGVS:: NC_000008.11:g.22649859_22649862del, NC_000008.11:g.22649860_22649862del, NC_000008.11:g.22649861_22649862del, NC_000008.11:g.22649862del, NC_000008.11:g.22649861_22649862dup, NC_000008.10:g.22507372_22507375del, NC_000008.10:g.22507373_22507375del, NC_000008.10:g.22507374_22507375del, NC_000008.10:g.22507375del, NC_000008.10:g.22507374_22507375dup

Select item 149095896615.

rs1490958966 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:22620780 (GRCh38)
8:22478293 (GRCh37)
Canonical SPDI:: NC_000008.11:22620779:T:C
Gene:: BIN3 (Varview), CCAR2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.22620780T>C, NC_000008.10:g.22478293T>C, NM_021174.6:c.*1098T>C, NM_018688.6:c.*642A>G, NM_018688.5:c.*642A>G, NM_018688.4:c.*642A>G, XM_011544604.3:c.*1098T>C, NM_001363068.2:c.*1098T>C, NR_033902.2:n.3994T>C, NM_001363069.2:c.*1098T>C, NR_156436.2:n.1631A>G, NR_156436.1:n.1658A>G, NM_001363046.2:c.*642A>G, NM_001363046.1:c.*642A>G, XM_047421995.1:c.*642A>G

Select item 149091100316.

rs1490911003 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:22656463 (GRCh38)
8:22513976 (GRCh37)
Canonical SPDI:: NC_000008.11:22656462:T:A
Gene:: BIN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000008.11:g.22656463T>A, NC_000008.10:g.22513976T>A

Select item 149090921117.

rs1490909211 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CC [Show Flanks]
Chromosome:: 8:22665986 (GRCh38)
8:22523500 (GRCh37)
Canonical SPDI:: NC_000008.11:22665986:CC:CCCC
Gene:: BIN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
CC=0.000023/6 (TOPMED)
CC=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.22665987_22665988dup, NC_000008.10:g.22523500_22523501dup

Select item 149087875618.

rs1490878756 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:22643824 (GRCh38)
8:22501337 (GRCh37)
Canonical SPDI:: NC_000008.11:22643823:C:T
Gene:: BIN3 (Varview), BIN3-IT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_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_000008.11:g.22643824C>T, NC_000008.10:g.22501337C>T

Select item 149074608219.

rs1490746082 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GACTT [Show Flanks]
Chromosome:: 8:22620393 (GRCh38)
8:22477907 (GRCh37)
Canonical SPDI:: NC_000008.11:22620393:TTGACTT:TTGACTTGACTT
Gene:: BIN3 (Varview), CCAR2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTGACTTGACTT=0./0 (ALFA)
TTGAC=0.000007/1 (GnomAD)
TTGAC=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.22620396_22620400dup, NC_000008.10:g.22477909_22477913dup, NM_021174.6:c.*714_*718dup, NM_021174.5:c.*714_*718dup, XM_011544604.3:c.*714_*718dup, XM_011544604.2:c.*714_*718dup, XM_011544604.1:c.*714_*718dup, NM_001363068.2:c.*714_*718dup, NM_001363068.1:c.*714_*718dup, NR_033902.2:n.3610_3614dup, NM_001363069.2:c.*714_*718dup, NM_001363069.1:c.*714_*718dup, NR_033902.1:n.3735_3739dup, NM_199205.1:c.*714_*718dup, NM_001393997.1:c.*714_*718dup

Select item 149052617620.

rs1490526176 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:22622628 (GRCh38)
8:22480141 (GRCh37)
Canonical SPDI:: NC_000008.11:22622627:A:G
Gene:: BIN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.22622628A>G, NC_000008.10:g.22480141A>G, NR_156436.2:n.755T>C, NR_156436.1:n.782T>C

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