SNP Links for Nucleotide (Select 196114895) - SNP

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Select item 14912533351.

rs1491253335 has merged into rs375720808 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:52948504 (GRCh38)
12:53342288 (GRCh37)
Canonical SPDI:: NC_000012.12:52948494:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:52948494:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:52948494:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:52948494:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:52948494:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:52948494:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:52948494:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:52948494:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:52948494:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:52948494:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:52948494:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:52948494:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:52948494:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52948494:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52948494:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52948494:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52948494:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52948494:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52948494:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52948494:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52948494:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52948494:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52948494:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52948494:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KRT8 (Varview), KRT18 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.52948504_52948515del, NC_000012.12:g.52948505_52948515del, NC_000012.12:g.52948506_52948515del, NC_000012.12:g.52948507_52948515del, NC_000012.12:g.52948508_52948515del, NC_000012.12:g.52948509_52948515del, NC_000012.12:g.52948510_52948515del, NC_000012.12:g.52948511_52948515del, NC_000012.12:g.52948512_52948515del, NC_000012.12:g.52948513_52948515del, NC_000012.12:g.52948514_52948515del, NC_000012.12:g.52948515del, NC_000012.12:g.52948515dup, NC_000012.12:g.52948514_52948515dup, NC_000012.12:g.52948513_52948515dup, NC_000012.12:g.52948512_52948515dup, NC_000012.12:g.52948511_52948515dup, NC_000012.12:g.52948510_52948515dup, NC_000012.12:g.52948508_52948515dup, NC_000012.12:g.52948507_52948515dup, NC_000012.12:g.52948506_52948515dup, NC_000012.12:g.52948505_52948515dup, NC_000012.12:g.52948504_52948515dup, NC_000012.12:g.52948503_52948515dup, NC_000012.11:g.53342288_53342299del, NC_000012.11:g.53342289_53342299del, NC_000012.11:g.53342290_53342299del, NC_000012.11:g.53342291_53342299del, NC_000012.11:g.53342292_53342299del, NC_000012.11:g.53342293_53342299del, NC_000012.11:g.53342294_53342299del, NC_000012.11:g.53342295_53342299del, NC_000012.11:g.53342296_53342299del, NC_000012.11:g.53342297_53342299del, NC_000012.11:g.53342298_53342299del, NC_000012.11:g.53342299del, NC_000012.11:g.53342299dup, NC_000012.11:g.53342298_53342299dup, NC_000012.11:g.53342297_53342299dup, NC_000012.11:g.53342296_53342299dup, NC_000012.11:g.53342295_53342299dup, NC_000012.11:g.53342294_53342299dup, NC_000012.11:g.53342292_53342299dup, NC_000012.11:g.53342291_53342299dup, NC_000012.11:g.53342290_53342299dup, NC_000012.11:g.53342289_53342299dup, NC_000012.11:g.53342288_53342299dup, NC_000012.11:g.53342287_53342299dup, NG_008402.2:g.6361_6372del, NG_008402.2:g.6362_6372del, NG_008402.2:g.6363_6372del, NG_008402.2:g.6364_6372del, NG_008402.2:g.6365_6372del, NG_008402.2:g.6366_6372del, NG_008402.2:g.6367_6372del, NG_008402.2:g.6368_6372del, NG_008402.2:g.6369_6372del, NG_008402.2:g.6370_6372del, NG_008402.2:g.6371_6372del, NG_008402.2:g.6372del, NG_008402.2:g.6372dup, NG_008402.2:g.6371_6372dup, NG_008402.2:g.6370_6372dup, NG_008402.2:g.6369_6372dup, NG_008402.2:g.6368_6372dup, NG_008402.2:g.6367_6372dup, NG_008402.2:g.6365_6372dup, NG_008402.2:g.6364_6372dup, NG_008402.2:g.6363_6372dup, NG_008402.2:g.6362_6372dup, NG_008402.2:g.6361_6372dup, NG_008402.2:g.6360_6372dup, NG_042295.2:g.840_851del, NG_042295.2:g.841_851del, NG_042295.2:g.842_851del, NG_042295.2:g.843_851del, NG_042295.2:g.844_851del, NG_042295.2:g.845_851del, NG_042295.2:g.846_851del, NG_042295.2:g.847_851del, NG_042295.2:g.848_851del, NG_042295.2:g.849_851del, NG_042295.2:g.850_851del, NG_042295.2:g.851del, NG_042295.2:g.851dup, NG_042295.2:g.850_851dup, NG_042295.2:g.849_851dup, NG_042295.2:g.848_851dup, NG_042295.2:g.847_851dup, NG_042295.2:g.846_851dup, NG_042295.2:g.844_851dup, NG_042295.2:g.843_851dup, NG_042295.2:g.842_851dup, NG_042295.2:g.841_851dup, NG_042295.2:g.840_851dup, NG_042295.2:g.839_851dup, NG_042295.1:g.566_577del, NG_042295.1:g.567_577del, NG_042295.1:g.568_577del, NG_042295.1:g.569_577del, NG_042295.1:g.570_577del, NG_042295.1:g.571_577del, NG_042295.1:g.572_577del, NG_042295.1:g.573_577del, NG_042295.1:g.574_577del, NG_042295.1:g.575_577del, NG_042295.1:g.576_577del, NG_042295.1:g.577del, NG_042295.1:g.577dup, NG_042295.1:g.576_577dup, NG_042295.1:g.575_577dup, NG_042295.1:g.574_577dup, NG_042295.1:g.573_577dup, NG_042295.1:g.572_577dup, NG_042295.1:g.570_577dup, NG_042295.1:g.569_577dup, NG_042295.1:g.568_577dup, NG_042295.1:g.567_577dup, NG_042295.1:g.566_577dup, NG_042295.1:g.565_577dup, NG_008351.1:g.4634_4645del, NG_008351.1:g.4635_4645del, NG_008351.1:g.4636_4645del, NG_008351.1:g.4637_4645del, NG_008351.1:g.4638_4645del, NG_008351.1:g.4639_4645del, NG_008351.1:g.4640_4645del, NG_008351.1:g.4641_4645del, NG_008351.1:g.4642_4645del, NG_008351.1:g.4643_4645del, NG_008351.1:g.4644_4645del, NG_008351.1:g.4645del, NG_008351.1:g.4645dup, NG_008351.1:g.4644_4645dup, NG_008351.1:g.4643_4645dup, NG_008351.1:g.4642_4645dup, NG_008351.1:g.4641_4645dup, NG_008351.1:g.4640_4645dup, NG_008351.1:g.4638_4645dup, NG_008351.1:g.4637_4645dup, NG_008351.1:g.4636_4645dup, NG_008351.1:g.4635_4645dup, NG_008351.1:g.4634_4645dup, NG_008351.1:g.4633_4645dup

Select item 14910722182.

rs1491072218 has merged into rs71971733 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TTT,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:52947711 (GRCh38)
12:53341495 (GRCh37)
Canonical SPDI:: NC_000012.12:52947700:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:52947700:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:52947700:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:52947700:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:52947700:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:52947700:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:52947700:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:52947700:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52947700:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52947700:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52947700:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52947700:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52947700:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52947700:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52947700:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52947700:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52947700:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52947700:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52947700:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52947700:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52947700:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KRT8 (Varview), KRT18 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTT=0./0 (GENOME_DK)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52947711_52947724del, NC_000012.12:g.52947714_52947724del, NC_000012.12:g.52947715_52947724del, NC_000012.12:g.52947717_52947724del, NC_000012.12:g.52947719_52947724del, NC_000012.12:g.52947720_52947724del, NC_000012.12:g.52947721_52947724del, NC_000012.12:g.52947722_52947724del, NC_000012.12:g.52947723_52947724del, NC_000012.12:g.52947724del, NC_000012.12:g.52947724dup, NC_000012.12:g.52947723_52947724dup, NC_000012.12:g.52947722_52947724dup, NC_000012.12:g.52947721_52947724dup, NC_000012.12:g.52947720_52947724dup, NC_000012.12:g.52947719_52947724dup, NC_000012.12:g.52947718_52947724dup, NC_000012.12:g.52947717_52947724dup, NC_000012.12:g.52947715_52947724dup, NC_000012.12:g.52947724_52947725insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.52947724_52947725insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.53341495_53341508del, NC_000012.11:g.53341498_53341508del, NC_000012.11:g.53341499_53341508del, NC_000012.11:g.53341501_53341508del, NC_000012.11:g.53341503_53341508del, NC_000012.11:g.53341504_53341508del, NC_000012.11:g.53341505_53341508del, NC_000012.11:g.53341506_53341508del, NC_000012.11:g.53341507_53341508del, NC_000012.11:g.53341508del, NC_000012.11:g.53341508dup, NC_000012.11:g.53341507_53341508dup, NC_000012.11:g.53341506_53341508dup, NC_000012.11:g.53341505_53341508dup, NC_000012.11:g.53341504_53341508dup, NC_000012.11:g.53341503_53341508dup, NC_000012.11:g.53341502_53341508dup, NC_000012.11:g.53341501_53341508dup, NC_000012.11:g.53341499_53341508dup, NC_000012.11:g.53341508_53341509insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.53341508_53341509insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008402.2:g.7153_7166del, NG_008402.2:g.7156_7166del, NG_008402.2:g.7157_7166del, NG_008402.2:g.7159_7166del, NG_008402.2:g.7161_7166del, NG_008402.2:g.7162_7166del, NG_008402.2:g.7163_7166del, NG_008402.2:g.7164_7166del, NG_008402.2:g.7165_7166del, NG_008402.2:g.7166del, NG_008402.2:g.7166dup, NG_008402.2:g.7165_7166dup, NG_008402.2:g.7164_7166dup, NG_008402.2:g.7163_7166dup, NG_008402.2:g.7162_7166dup, NG_008402.2:g.7161_7166dup, NG_008402.2:g.7160_7166dup, NG_008402.2:g.7159_7166dup, NG_008402.2:g.7157_7166dup, NG_008402.2:g.7166_7167insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008402.2:g.7166_7167insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_042295.2:g.47_60del, NG_042295.2:g.50_60del, NG_042295.2:g.51_60del, NG_042295.2:g.53_60del, NG_042295.2:g.55_60del, NG_042295.2:g.56_60del, NG_042295.2:g.57_60del, NG_042295.2:g.58_60del, NG_042295.2:g.59_60del, NG_042295.2:g.60del, NG_042295.2:g.60dup, NG_042295.2:g.59_60dup, NG_042295.2:g.58_60dup, NG_042295.2:g.57_60dup, NG_042295.2:g.56_60dup, NG_042295.2:g.55_60dup, NG_042295.2:g.54_60dup, NG_042295.2:g.53_60dup, NG_042295.2:g.51_60dup, NG_042295.2:g.60_61insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042295.2:g.60_61insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008351.1:g.3841_3854del, NG_008351.1:g.3844_3854del, NG_008351.1:g.3845_3854del, NG_008351.1:g.3847_3854del, NG_008351.1:g.3849_3854del, NG_008351.1:g.3850_3854del, NG_008351.1:g.3851_3854del, NG_008351.1:g.3852_3854del, NG_008351.1:g.3853_3854del, NG_008351.1:g.3854del, NG_008351.1:g.3854dup, NG_008351.1:g.3853_3854dup, NG_008351.1:g.3852_3854dup, NG_008351.1:g.3851_3854dup, NG_008351.1:g.3850_3854dup, NG_008351.1:g.3849_3854dup, NG_008351.1:g.3848_3854dup, NG_008351.1:g.3847_3854dup, NG_008351.1:g.3845_3854dup, NG_008351.1:g.3854_3855insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008351.1:g.3854_3855insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910040773.

rs1491004077 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52953993 (GRCh38)
12:53347777 (GRCh37)
Canonical SPDI:: NC_000012.12:52953992:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000022/3 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.52953993C>T, NC_000012.11:g.53347777C>T, NG_008402.2:g.874G>A, NG_042295.2:g.6329C>T, NG_042295.1:g.6055C>T, NG_008351.1:g.10123C>T

Select item 14908655904.

rs1490865590 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGTATATGTGTATATATGTG>- [Show Flanks]
Chromosome:: 12:52954868 (GRCh38)
12:53348652 (GRCh37)
Canonical SPDI:: NC_000012.12:52954865:TGAGTATATGTGTATATATGTG:TG
Validated:: by frequency,by alfa
MAF:: TG=0./0 (ALFA)
HGVS:: NC_000012.12:g.52954868_52954887del, NC_000012.11:g.53348652_53348671del, NG_008402.2:g.0_1insCACATATATACACATATACTC, NG_008402.2:g.0_1insC, NG_042295.2:g.7204_7223del, NG_042295.1:g.6930_6949del, NG_008351.1:g.10998_11017del

Select item 14907461835.

rs1490746183 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:52946974 (GRCh38)
12:53340758 (GRCh37)
Canonical SPDI:: NC_000012.12:52946973:C:A
Gene:: KRT8 (Varview), KRT18 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.52946974C>A, NC_000012.11:g.53340758C>A, NG_008402.2:g.7893G>T, NG_008351.1:g.3104C>A

Select item 14906336376.

rs1490633637 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52945750 (GRCh38)
12:53339534 (GRCh37)
Canonical SPDI:: NC_000012.12:52945749:C:T
Gene:: KRT8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000012.12:g.52945750C>T, NC_000012.11:g.53339534C>T, NG_008402.2:g.9117G>A, NG_008351.1:g.1880C>T

Select item 14901428087.

rs1490142808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52945216 (GRCh38)
12:53339000 (GRCh37)
Canonical SPDI:: NC_000012.12:52945215:C:T
Gene:: KRT8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.52945216C>T, NC_000012.11:g.53339000C>T, NG_008402.2:g.9651G>A, NG_008351.1:g.1346C>T

Select item 14893543968.

rs1489354396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:52953361 (GRCh38)
12:53347145 (GRCh37)
Canonical SPDI:: NC_000012.12:52953360:G:A,NC_000012.12:52953360:G:T
Gene:: KRT18 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52953361G>A, NC_000012.12:g.52953361G>T, NC_000012.11:g.53347145G>A, NC_000012.11:g.53347145G>T, NG_008402.2:g.1506C>T, NG_008402.2:g.1506C>A, NG_042295.2:g.5697G>A, NG_042295.2:g.5697G>T, NG_042295.1:g.5423G>A, NG_042295.1:g.5423G>T, NG_008351.1:g.9491G>A, NG_008351.1:g.9491G>T

Select item 14891726969.

rs1489172696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52951443 (GRCh38)
12:53345227 (GRCh37)
Canonical SPDI:: NC_000012.12:52951442:C:T
Gene:: KRT8 (Varview), KRT18 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.52951443C>T, NC_000012.11:g.53345227C>T, NG_008402.2:g.3424G>A, NG_042295.2:g.3779C>T, NG_042295.1:g.3505C>T, NG_008351.1:g.7573C>T

Select item 148894876110.

rs1488948761 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52952632 (GRCh38)
12:53346416 (GRCh37)
Canonical SPDI:: NC_000012.12:52952631:A:G
Gene:: KRT18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.52952632A>G, NC_000012.11:g.53346416A>G, NG_008402.2:g.2235T>C, NG_042295.2:g.4968A>G, NG_042295.1:g.4694A>G, NG_008351.1:g.8762A>G

Select item 148831948511.

rs1488319485 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGTATATGTGTATATATGTGTATATG>- [Show Flanks]
Chromosome:: 12:52954868 (GRCh38)
12:53348652 (GRCh37)
Canonical SPDI:: NC_000012.12:52954861:TATATGAGTATATGTGTATATATGTGTATATG:TATATG
Validated:: by frequency,by alfa,by cluster
MAF:: TATATG=0.000612/10 (ALFA)
-=0.000546/1 (Korea1K)
-=0.00084/102 (GnomAD)
HGVS:: NC_000012.12:g.52954868_52954893del, NC_000012.11:g.53348652_53348677del, NG_008402.2:g.0_1insCATATACACATATATACACATATACTC, NG_008402.2:g.0_1insC, NG_042295.2:g.7204_7229del, NG_042295.1:g.6930_6955del, NG_008351.1:g.10998_11023del

Select item 148819397212.

rs1488193972 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:52950872 (GRCh38)
12:53344656 (GRCh37)
Canonical SPDI:: NC_000012.12:52950871:A:T
Gene:: KRT8 (Varview), KRT18 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,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_000012.12:g.52950872A>T, NC_000012.11:g.53344656A>T, NG_008402.2:g.3995T>A, NG_042295.2:g.3208A>T, NG_042295.1:g.2934A>T, NG_008351.1:g.7002A>T, NM_000224.3:c.623A>T, NM_000224.2:c.623A>T, NM_199187.2:c.623A>T, NM_199187.1:c.623A>T, NP_000215.1:p.Glu208Val, NP_954657.1:p.Glu208Val

Select item 148772213313.

rs1487722133 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:52954142 (GRCh38)
12:53347926 (GRCh37)
Canonical SPDI:: NC_000012.12:52954141:G:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.52954142G>T, NC_000012.11:g.53347926G>T, NG_008402.2:g.725C>A, NG_042295.2:g.6478G>T, NG_042295.1:g.6204G>T, NG_008351.1:g.10272G>T

Select item 148766427614.

rs1487664276 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:52954871 (GRCh38)
12:53348655 (GRCh37)
Canonical SPDI:: NC_000012.12:52954870:A:G,NC_000012.12:52954870:A:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.52954871A>G, NC_000012.12:g.52954871A>T, NC_000012.11:g.53348655A>G, NC_000012.11:g.53348655A>T, NG_042295.2:g.7207A>G, NG_042295.2:g.7207A>T, NG_042295.1:g.6933A>G, NG_042295.1:g.6933A>T, NG_008351.1:g.11001A>G, NG_008351.1:g.11001A>T

Select item 148758189915.

rs1487581899 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:52949777 (GRCh38)
12:53343561 (GRCh37)
Canonical SPDI:: NC_000012.12:52949776:G:A,NC_000012.12:52949776:G:T
Gene:: KRT8 (Varview), KRT18 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,non_coding_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_000012.12:g.52949777G>A, NC_000012.12:g.52949777G>T, NC_000012.11:g.53343561G>A, NC_000012.11:g.53343561G>T, NG_008402.2:g.5090C>T, NG_008402.2:g.5090C>A, NR_045962.2:n.84C>T, NR_045962.2:n.84C>A, NR_045962.1:n.90C>T, NR_045962.1:n.90C>A, NM_001256293.2:c.-109C>T, NM_001256293.2:c.-109C>A, NM_001256293.1:c.-109C>T, NM_001256293.1:c.-109C>A, NG_042295.2:g.2113G>A, NG_042295.2:g.2113G>T, NG_042295.1:g.1839G>A, NG_042295.1:g.1839G>T, NG_008351.1:g.5907G>A, NG_008351.1:g.5907G>T

Select item 148698389316.

rs1486983893 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52951483 (GRCh38)
12:53345267 (GRCh37)
Canonical SPDI:: NC_000012.12:52951482:A:G
Gene:: KRT8 (Varview), KRT18 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.52951483A>G, NC_000012.11:g.53345267A>G, NG_008402.2:g.3384T>C, NG_042295.2:g.3819A>G, NG_042295.1:g.3545A>G, NG_008351.1:g.7613A>G, NM_000224.3:c.660A>G, NM_000224.2:c.660A>G, NM_199187.2:c.660A>G, NM_199187.1:c.660A>G

Select item 148662648617.

rs1486626486 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 12:52954597 (GRCh38)
12:53348381 (GRCh37)
Canonical SPDI:: NC_000012.12:52954596:C:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.52954597del, NC_000012.11:g.53348381del, NG_008402.2:g.270del, NG_042295.2:g.6933del, NG_042295.1:g.6659del, NG_008351.1:g.10727del

Select item 148660238918.

rs1486602389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:52951880 (GRCh38)
12:53345664 (GRCh37)
Canonical SPDI:: NC_000012.12:52951879:C:A
Gene:: KRT18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52951880C>A, NC_000012.11:g.53345664C>A, NG_008402.2:g.2987G>T, NG_042295.2:g.4216C>A, NG_042295.1:g.3942C>A, NG_008351.1:g.8010C>A

Select item 148645825119.

rs1486458251 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:52948229 (GRCh38)
12:53342013 (GRCh37)
Canonical SPDI:: NC_000012.12:52948228:T:C
Gene:: KRT8 (Varview), KRT18 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.52948229T>C, NC_000012.11:g.53342013T>C, NG_008402.2:g.6638A>G, NG_042295.2:g.565T>C, NG_042295.1:g.291T>C, NG_008351.1:g.4359T>C

Select item 148631850720.

rs1486318507 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52949286 (GRCh38)
12:53343070 (GRCh37)
Canonical SPDI:: NC_000012.12:52949285:G:A
Gene:: KRT8 (Varview), KRT18 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52949286G>A, NC_000012.11:g.53343070G>A, NG_008402.2:g.5581C>T, NG_042295.2:g.1622G>A, NG_042295.1:g.1348G>A, NG_008351.1:g.5416G>A, NM_000224.3:c.113G>A, NM_000224.2:c.113G>A, NM_199187.2:c.113G>A, NM_199187.1:c.113G>A, NP_000215.1:p.Gly38Asp, NP_954657.1:p.Gly38Asp

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