SNP Links for Gene (Select 51780) - SNP

Links from Gene

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Select item 14915168851.

rs1491516885 has merged into rs869039471 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAAA [Show Flanks]
Chromosome:: 5:138362588 (GRCh38)
5:137698277 (GRCh37)
Canonical SPDI:: NC_000005.10:138362585:AAAA:AA,NC_000005.10:138362585:AAAA:AAA,NC_000005.10:138362585:AAAA:AAAAAA
Gene:: KDM3B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.00651/109 (TOMMO)
-=0.01625/9 (NorthernSweden)
-=0.01965/36 (Korea1K)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000005.10:g.138362588_138362589del, NC_000005.10:g.138362589del, NC_000005.10:g.138362588_138362589dup, NC_000005.9:g.137698277_137698278del, NC_000005.9:g.137698278del, NC_000005.9:g.137698277_137698278dup

Select item 14914726732.

rs1491472673 has merged into rs555563348 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:138401284 (GRCh38)
5:137736973 (GRCh37)
Canonical SPDI:: NC_000005.10:138401270:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:138401270:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:138401270:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:138401270:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:138401270:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:138401270:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:138401270:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:138401270:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KDM3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.2997/1501 (1000Genomes)
HGVS:: NC_000005.10:g.138401284_138401286del, NC_000005.10:g.138401285_138401286del, NC_000005.10:g.138401286del, NC_000005.10:g.138401286dup, NC_000005.10:g.138401285_138401286dup, NC_000005.10:g.138401284_138401286dup, NC_000005.10:g.138401283_138401286dup, NC_000005.10:g.138401278_138401286dup, NC_000005.9:g.137736973_137736975del, NC_000005.9:g.137736974_137736975del, NC_000005.9:g.137736975del, NC_000005.9:g.137736975dup, NC_000005.9:g.137736974_137736975dup, NC_000005.9:g.137736973_137736975dup, NC_000005.9:g.137736972_137736975dup, NC_000005.9:g.137736967_137736975dup

Select item 14914706213.

rs1491470621 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 5:138418075 (GRCh38)
5:137753764 (GRCh37)
Canonical SPDI:: NC_000005.10:138418074:GT:
Gene:: KDM3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000019/2 (GnomAD)
HGVS:: NC_000005.10:g.138418075_138418076del, NC_000005.9:g.137753764_137753765del

Select item 14914596324.

rs1491459632 has merged into rs60899302 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:138426870 (GRCh38)
5:137762559 (GRCh37)
Canonical SPDI:: NC_000005.10:138426862:AAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000005.10:138426862:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:138426862:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:138426862:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:138426862:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:138426862:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:138426862:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:138426862:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:138426862:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:138426862:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:138426862:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:138426862:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:138426862:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:138426862:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KDM3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.1305/503 (ALSPAC)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000005.10:g.138426870_138426880del, NC_000005.10:g.138426871_138426880del, NC_000005.10:g.138426872_138426880del, NC_000005.10:g.138426873_138426880del, NC_000005.10:g.138426874_138426880del, NC_000005.10:g.138426875_138426880del, NC_000005.10:g.138426876_138426880del, NC_000005.10:g.138426877_138426880del, NC_000005.10:g.138426878_138426880del, NC_000005.10:g.138426879_138426880del, NC_000005.10:g.138426880del, NC_000005.10:g.138426880dup, NC_000005.10:g.138426879_138426880dup, NC_000005.10:g.138426873_138426880dup, NC_000005.9:g.137762559_137762569del, NC_000005.9:g.137762560_137762569del, NC_000005.9:g.137762561_137762569del, NC_000005.9:g.137762562_137762569del, NC_000005.9:g.137762563_137762569del, NC_000005.9:g.137762564_137762569del, NC_000005.9:g.137762565_137762569del, NC_000005.9:g.137762566_137762569del, NC_000005.9:g.137762567_137762569del, NC_000005.9:g.137762568_137762569del, NC_000005.9:g.137762569del, NC_000005.9:g.137762569dup, NC_000005.9:g.137762568_137762569dup, NC_000005.9:g.137762562_137762569dup

Select item 14914533615.

rs1491453361 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGTG [Show Flanks]
Chromosome:: 5:138389783 (GRCh38)
5:137725473 (GRCh37)
Canonical SPDI:: NC_000005.10:138389783:GTG:GTGAGTG
Gene:: KDM3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGAGTG=0./0 (ALFA)
GTGA=0./0 (GnomAD)
HGVS:: NC_000005.10:g.138389786_138389787insAGTG, NC_000005.9:g.137725475_137725476insAGTG

Select item 14913985316.

rs1491398531 has merged into rs545925296 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:138416599 (GRCh38)
5:137752288 (GRCh37)
Canonical SPDI:: NC_000005.10:138416588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:138416588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:138416588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:138416588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:138416588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:138416588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:138416588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:138416588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138416588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138416588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138416588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138416588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138416588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138416588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138416588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138416588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138416588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138416588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138416588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138416588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138416588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138416588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KDM3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.3468/1737 (1000Genomes)
HGVS:: NC_000005.10:g.138416599_138416610del, NC_000005.10:g.138416600_138416610del, NC_000005.10:g.138416601_138416610del, NC_000005.10:g.138416604_138416610del, NC_000005.10:g.138416607_138416610del, NC_000005.10:g.138416608_138416610del, NC_000005.10:g.138416609_138416610del, NC_000005.10:g.138416610del, NC_000005.10:g.138416610dup, NC_000005.10:g.138416609_138416610dup, NC_000005.10:g.138416608_138416610dup, NC_000005.10:g.138416607_138416610dup, NC_000005.10:g.138416606_138416610dup, NC_000005.10:g.138416605_138416610dup, NC_000005.10:g.138416602_138416610dup, NC_000005.10:g.138416601_138416610dup, NC_000005.10:g.138416600_138416610dup, NC_000005.10:g.138416599_138416610dup, NC_000005.10:g.138416598_138416610dup, NC_000005.10:g.138416595_138416610dup, NC_000005.10:g.138416590_138416610dup, NC_000005.10:g.138416610_138416611insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.137752288_137752299del, NC_000005.9:g.137752289_137752299del, NC_000005.9:g.137752290_137752299del, NC_000005.9:g.137752293_137752299del, NC_000005.9:g.137752296_137752299del, NC_000005.9:g.137752297_137752299del, NC_000005.9:g.137752298_137752299del, NC_000005.9:g.137752299del, NC_000005.9:g.137752299dup, NC_000005.9:g.137752298_137752299dup, NC_000005.9:g.137752297_137752299dup, NC_000005.9:g.137752296_137752299dup, NC_000005.9:g.137752295_137752299dup, NC_000005.9:g.137752294_137752299dup, NC_000005.9:g.137752291_137752299dup, NC_000005.9:g.137752290_137752299dup, NC_000005.9:g.137752289_137752299dup, NC_000005.9:g.137752288_137752299dup, NC_000005.9:g.137752287_137752299dup, NC_000005.9:g.137752284_137752299dup, NC_000005.9:g.137752279_137752299dup, NC_000005.9:g.137752299_137752300insAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913692747.

rs1491369274 has merged into rs1008985305 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 5:138419771 (GRCh38)
5:137755460 (GRCh37)
Canonical SPDI:: NC_000005.10:138419766:ATATATAT:ATAT,NC_000005.10:138419766:ATATATAT:ATATAT,NC_000005.10:138419766:ATATATAT:ATATATATAT,NC_000005.10:138419766:ATATATAT:ATATATATATAT
Gene:: KDM3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0./0 (ALFA)
AT=0.00039/7 (TOMMO)
HGVS:: NC_000005.10:g.138419767AT[2], NC_000005.10:g.138419767AT[3], NC_000005.10:g.138419767AT[5], NC_000005.10:g.138419767AT[6], NC_000005.9:g.137755456AT[2], NC_000005.9:g.137755456AT[3], NC_000005.9:g.137755456AT[5], NC_000005.9:g.137755456AT[6]

Select item 14913633268.

rs1491363326 has merged into rs148405512 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 5:138389800 (GRCh38)
5:137725489 (GRCh37)
Canonical SPDI:: NC_000005.10:138389782:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000005.10:138389782:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000005.10:138389782:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000005.10:138389782:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:138389782:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:138389782:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:138389782:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:138389782:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:138389782:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:138389782:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:138389782:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:138389782:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:138389782:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:138389782:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:138389782:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:138389782:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:138389782:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: KDM3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
TG=0.1869/936 (1000Genomes)
HGVS:: NC_000005.10:g.138389784GT[8], NC_000005.10:g.138389784GT[9], NC_000005.10:g.138389784GT[10], NC_000005.10:g.138389784GT[11], NC_000005.10:g.138389784GT[12], NC_000005.10:g.138389784GT[13], NC_000005.10:g.138389784GT[14], NC_000005.10:g.138389784GT[16], NC_000005.10:g.138389784GT[17], NC_000005.10:g.138389784GT[18], NC_000005.10:g.138389784GT[19], NC_000005.10:g.138389784GT[20], NC_000005.10:g.138389784GT[21], NC_000005.10:g.138389784GT[22], NC_000005.10:g.138389784GT[23], NC_000005.10:g.138389784GT[24], NC_000005.10:g.138389784GT[25], NC_000005.9:g.137725473GT[8], NC_000005.9:g.137725473GT[9], NC_000005.9:g.137725473GT[10], NC_000005.9:g.137725473GT[11], NC_000005.9:g.137725473GT[12], NC_000005.9:g.137725473GT[13], NC_000005.9:g.137725473GT[14], NC_000005.9:g.137725473GT[16], NC_000005.9:g.137725473GT[17], NC_000005.9:g.137725473GT[18], NC_000005.9:g.137725473GT[19], NC_000005.9:g.137725473GT[20], NC_000005.9:g.137725473GT[21], NC_000005.9:g.137725473GT[22], NC_000005.9:g.137725473GT[23], NC_000005.9:g.137725473GT[24], NC_000005.9:g.137725473GT[25]

Select item 14913400789.

rs1491340078 has merged into rs58389517 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:138384753 (GRCh38)
5:137720442 (GRCh37)
Canonical SPDI:: NC_000005.10:138384740:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:138384740:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:138384740:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:138384740:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:138384740:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:138384740:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:138384740:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:138384740:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:138384740:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138384740:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138384740:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138384740:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138384740:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138384740:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138384740:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138384740:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138384740:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KDM3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAA=0./0 (GENOME_DK)
-=0.261427/69197 (TOPMED)
AAAAAAAAAAA=0.305911/1532 (1000Genomes)
HGVS:: NC_000005.10:g.138384753_138384764del, NC_000005.10:g.138384754_138384764del, NC_000005.10:g.138384755_138384764del, NC_000005.10:g.138384756_138384764del, NC_000005.10:g.138384757_138384764del, NC_000005.10:g.138384758_138384764del, NC_000005.10:g.138384759_138384764del, NC_000005.10:g.138384761_138384764del, NC_000005.10:g.138384762_138384764del, NC_000005.10:g.138384763_138384764del, NC_000005.10:g.138384764del, NC_000005.10:g.138384764dup, NC_000005.10:g.138384763_138384764dup, NC_000005.10:g.138384762_138384764dup, NC_000005.10:g.138384760_138384764dup, NC_000005.10:g.138384764_138384765insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.138384764_138384765insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.137720442_137720453del, NC_000005.9:g.137720443_137720453del, NC_000005.9:g.137720444_137720453del, NC_000005.9:g.137720445_137720453del, NC_000005.9:g.137720446_137720453del, NC_000005.9:g.137720447_137720453del, NC_000005.9:g.137720448_137720453del, NC_000005.9:g.137720450_137720453del, NC_000005.9:g.137720451_137720453del, NC_000005.9:g.137720452_137720453del, NC_000005.9:g.137720453del, NC_000005.9:g.137720453dup, NC_000005.9:g.137720452_137720453dup, NC_000005.9:g.137720451_137720453dup, NC_000005.9:g.137720449_137720453dup, NC_000005.9:g.137720453_137720454insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.137720453_137720454insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149130442810.

rs1491304428 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:138426862 (GRCh38)
5:137762551 (GRCh37)
Canonical SPDI:: NC_000005.10:138426861:CA:
Gene:: KDM3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.138426862_138426863del, NC_000005.9:g.137762551_137762552del

Select item 149130041311.

rs1491300413 has merged into rs554180552 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 5:138400906 (GRCh38)
5:137736595 (GRCh37)
Canonical SPDI:: NC_000005.10:138400896:TTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:138400896:TTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:138400896:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:138400896:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:138400896:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:138400896:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: KDM3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.14696/87 (NorthernSweden)
T=0.175/7 (GENOME_DK)
T=0.30751/1540 (1000Genomes)
HGVS:: NC_000005.10:g.138400906_138400908del, NC_000005.10:g.138400907_138400908del, NC_000005.10:g.138400908del, NC_000005.10:g.138400908dup, NC_000005.10:g.138400907_138400908dup, NC_000005.10:g.138400906_138400908dup, NC_000005.9:g.137736595_137736597del, NC_000005.9:g.137736596_137736597del, NC_000005.9:g.137736597del, NC_000005.9:g.137736597dup, NC_000005.9:g.137736596_137736597dup, NC_000005.9:g.137736595_137736597dup

Select item 149128001912.

rs1491280019 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 5:138418074 (GRCh38)
5:137753763 (GRCh37)
Canonical SPDI:: NC_000005.10:138418073:GG:
Gene:: KDM3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000049/6 (GnomAD)
HGVS:: NC_000005.10:g.138418074_138418075del, NC_000005.9:g.137753763_137753764del

Select item 149125926213.

rs1491259262 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:138384740 (GRCh38)
5:137720429 (GRCh37)
Canonical SPDI:: NC_000005.10:138384739:CA:
Gene:: KDM3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.138384740_138384741del, NC_000005.9:g.137720429_137720430del

Select item 149123700914.

rs1491237009 has merged into rs55976818 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 5:138360537 (GRCh38)
5:137696226 (GRCh37)
Canonical SPDI:: NC_000005.10:138360522:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000005.10:138360522:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000005.10:138360522:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000005.10:138360522:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000005.10:138360522:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:138360522:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:138360522:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:138360522:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:138360522:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:138360522:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:138360522:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:138360522:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:138360522:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:138360522:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:138360522:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:138360522:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:138360522:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:138360522:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: KDM3B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTG=0./0 (ALFA)
-=0.075/3 (GENOME_DK)
TG=0.372/1863 (1000Genomes)
HGVS:: NC_000005.10:g.138360523TG[7], NC_000005.10:g.138360523TG[8], NC_000005.10:g.138360523TG[9], NC_000005.10:g.138360523TG[10], NC_000005.10:g.138360523TG[11], NC_000005.10:g.138360523TG[12], NC_000005.10:g.138360523TG[13], NC_000005.10:g.138360523TG[14], NC_000005.10:g.138360523TG[16], NC_000005.10:g.138360523TG[17], NC_000005.10:g.138360523TG[18], NC_000005.10:g.138360523TG[19], NC_000005.10:g.138360523TG[20], NC_000005.10:g.138360523TG[21], NC_000005.10:g.138360523TG[22], NC_000005.10:g.138360523TG[23], NC_000005.10:g.138360523TG[24], NC_000005.10:g.138360523TG[25], NC_000005.9:g.137696212TG[7], NC_000005.9:g.137696212TG[8], NC_000005.9:g.137696212TG[9], NC_000005.9:g.137696212TG[10], NC_000005.9:g.137696212TG[11], NC_000005.9:g.137696212TG[12], NC_000005.9:g.137696212TG[13], NC_000005.9:g.137696212TG[14], NC_000005.9:g.137696212TG[16], NC_000005.9:g.137696212TG[17], NC_000005.9:g.137696212TG[18], NC_000005.9:g.137696212TG[19], NC_000005.9:g.137696212TG[20], NC_000005.9:g.137696212TG[21], NC_000005.9:g.137696212TG[22], NC_000005.9:g.137696212TG[23], NC_000005.9:g.137696212TG[24], NC_000005.9:g.137696212TG[25]

Select item 149123223715.

rs1491232237 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 5:138360522 (GRCh38)
5:137696211 (GRCh37)
Canonical SPDI:: NC_000005.10:138360521:TT:
Gene:: KDM3B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00011/7 (GnomAD)
HGVS:: NC_000005.10:g.138360522_138360523del, NC_000005.9:g.137696211_137696212del

Select item 149121060216.

rs1491210602 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CAC,CACAC [Show Flanks]
Chromosome:: 5:138419767 (GRCh38)
5:137755457 (GRCh37)
Canonical SPDI:: NC_000005.10:138419767::C,NC_000005.10:138419767::CAC,NC_000005.10:138419767::CACAC
Gene:: KDM3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAC=0./0 (ALFA)
HGVS:: NC_000005.10:g.138419767_138419768insC, NC_000005.10:g.138419767_138419768insCAC, NC_000005.10:g.138419767_138419768insCACAC, NC_000005.9:g.137755456_137755457insC, NC_000005.9:g.137755456_137755457insCAC, NC_000005.9:g.137755456_137755457insCACAC

Select item 149110518317.

rs1491105183 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:138384337 (GRCh38)
5:137720026 (GRCh37)
Canonical SPDI:: NC_000005.10:138384335:ATA:A
Gene:: KDM3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.138384337_138384338del, NC_000005.9:g.137720026_137720027del

Select item 149109413018.

rs1491094130 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:138426880 (GRCh38)
5:137762570 (GRCh37)
Canonical SPDI:: NC_000005.10:138426880:G:GG
Gene:: KDM3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.00007/5 (GnomAD)
HGVS:: NC_000005.10:g.138426881dup, NC_000005.9:g.137762570dup

Select item 149105468719.

rs1491054687 has merged into rs34859059 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 5:138381974 (GRCh38)
5:137717663 (GRCh37)
Canonical SPDI:: NC_000005.10:138381962:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:138381962:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:138381962:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:138381962:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:138381962:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: KDM3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.4125/2066 (1000Genomes)
HGVS:: NC_000005.10:g.138381974_138381975del, NC_000005.10:g.138381975del, NC_000005.10:g.138381975dup, NC_000005.10:g.138381974_138381975dup, NC_000005.10:g.138381967_138381975dup, NC_000005.9:g.137717663_137717664del, NC_000005.9:g.137717664del, NC_000005.9:g.137717664dup, NC_000005.9:g.137717663_137717664dup, NC_000005.9:g.137717656_137717664dup

Select item 149099402920.

rs1490994029 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:138416611 (GRCh38)
5:137752300 (GRCh37)
Canonical SPDI:: NC_000005.10:138416609:ACA:A
Gene:: KDM3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000759/9 (ALFA)
-=0.00131/22 (TOMMO)
-=0.001378/180 (GnomAD)
HGVS:: NC_000005.10:g.138416611_138416612del, NC_000005.9:g.137752300_137752301del

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