SNP Links for Gene (Select 25909) - SNP

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Select item 14915723831.

rs1491572383 has merged into rs1038477874 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 1:246903660 (GRCh38)
1:247066962 (GRCh37)
Canonical SPDI:: NC_000001.11:246903652:CCCCCCCCCC:CCCCCCC,NC_000001.11:246903652:CCCCCCCCCC:CCCCCCCC,NC_000001.11:246903652:CCCCCCCCCC:CCCCCCCCC,NC_000001.11:246903652:CCCCCCCCCC:CCCCCCCCCCC,NC_000001.11:246903652:CCCCCCCCCC:CCCCCCCCCCCC,NC_000001.11:246903652:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000001.11:246903652:CCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000001.11:246903652:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000001.11:246903652:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC
Gene:: AHCTF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCC=0./0 (ALFA)
-=0.01831/75 (Estonian)
HGVS:: NC_000001.11:g.246903660_246903662del, NC_000001.11:g.246903661_246903662del, NC_000001.11:g.246903662del, NC_000001.11:g.246903662dup, NC_000001.11:g.246903661_246903662dup, NC_000001.11:g.246903660_246903662dup, NC_000001.11:g.246903657_246903662dup, NC_000001.11:g.246903653_246903662dup, NC_000001.11:g.246903662_246903663insCCCCCCCCCCCC, NC_000001.10:g.247066962_247066964del, NC_000001.10:g.247066963_247066964del, NC_000001.10:g.247066964del, NC_000001.10:g.247066964dup, NC_000001.10:g.247066963_247066964dup, NC_000001.10:g.247066962_247066964dup, NC_000001.10:g.247066959_247066964dup, NC_000001.10:g.247066955_247066964dup, NC_000001.10:g.247066964_247066965insCCCCCCCCCCCC

Select item 14915257682.

rs1491525768 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:246843740 (GRCh38)
1:247007042 (GRCh37)
Canonical SPDI:: NC_000001.11:246843739:TA:
Gene:: AHCTF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.246843740_246843741del, NC_000001.10:g.247007042_247007043del

Select item 14915189053.

rs1491518905 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:246847306 (GRCh38)
1:247010608 (GRCh37)
Canonical SPDI:: NC_000001.11:246847304:ACA:A
Gene:: AHCTF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.246847306_246847307del, NC_000001.10:g.247010608_247010609del

Select item 14915154614.

rs1491515461 has merged into rs781552719 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 1:246930594 (GRCh38)
1:247093896 (GRCh37)
Canonical SPDI:: NC_000001.11:246930586:AAAAAAAAAAAA:AAAAAAA,NC_000001.11:246930586:AAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:246930586:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:246930586:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:246930586:AAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: AHCTF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.001376/23 (TOMMO)
AA=0.024002/89 (TWINSUK)
AA=0.026725/103 (ALSPAC)
HGVS:: NC_000001.11:g.246930594_246930598del, NC_000001.11:g.246930597_246930598del, NC_000001.11:g.246930598del, NC_000001.11:g.246930598dup, NC_000001.11:g.246930597_246930598dup, NC_000001.10:g.247093896_247093900del, NC_000001.10:g.247093899_247093900del, NC_000001.10:g.247093900del, NC_000001.10:g.247093900dup, NC_000001.10:g.247093899_247093900dup

Select item 14915149055.

rs1491514905 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:246872052 (GRCh38)
1:247035355 (GRCh37)
Canonical SPDI:: NC_000001.11:246872052::C
Gene:: AHCTF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.246872052_246872053insC, NC_000001.10:g.247035354_247035355insC

Select item 14914997466.

rs1491499746 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:246926039 (GRCh38)
1:247089342 (GRCh37)
Canonical SPDI:: NC_000001.11:246926039:T:TT
Gene:: AHCTF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.246926040dup, NC_000001.10:g.247089342dup

Select item 14914894917.

rs1491489491 has merged into rs1316044859 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>-,ACAC [Show Flanks]
Chromosome:: 1:246867891 (GRCh38)
1:247031193 (GRCh37)
Canonical SPDI:: NC_000001.11:246867888:ACAC:AC,NC_000001.11:246867888:ACAC:ACACAC
Gene:: AHCTF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACACAC=0./0 (ALFA)
HGVS:: NC_000001.11:g.246867889AC[1], NC_000001.11:g.246867889AC[3], NC_000001.10:g.247031191AC[1], NC_000001.10:g.247031191AC[3]

Select item 14914725668.

rs1491472566 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:246924669 (GRCh38)
1:247087971 (GRCh37)
Canonical SPDI:: NC_000001.11:246924664:ATATAT:ATAT
Gene:: AHCTF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
-=0.000036/5 (GnomAD)
-=0.000045/12 (TOPMED)
HGVS:: NC_000001.11:g.246924665AT[2], NC_000001.10:g.247087967AT[2]

Select item 14914706409.

rs1491470640 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:246869147 (GRCh38)
1:247032449 (GRCh37)
Canonical SPDI:: NC_000001.11:246869142:GTGTGT:GTGT
Gene:: AHCTF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.246869143GT[2], NC_000001.10:g.247032445GT[2]

Select item 149146045310.

rs1491460453 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 1:246903652 (GRCh38)
1:247066954 (GRCh37)
Canonical SPDI:: NC_000001.11:246903651:AC:
Gene:: AHCTF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.246903652_246903653del, NC_000001.10:g.247066954_247066955del

Select item 149145618411.

rs1491456184 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 1:246903653 (GRCh38)
1:247066956 (GRCh37)
Canonical SPDI:: NC_000001.11:246903653:C:CGC
Gene:: AHCTF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CGC=0./0 (ALFA)
CG=0.00004/3 (GnomAD)
HGVS:: NC_000001.11:g.246903654_246903655insGC, NC_000001.10:g.247066956_247066957insGC

Select item 149144374212.

rs1491443742 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C,CC,CCC,CCCCC [Show Flanks]
Chromosome:: 1:246867889 (GRCh38)
1:247031192 (GRCh37)
Canonical SPDI:: NC_000001.11:246867889:C:CC,NC_000001.11:246867889:C:CCC,NC_000001.11:246867889:C:CCCC,NC_000001.11:246867889:C:CCCCCC
Gene:: AHCTF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
CCCCC=0.00001/1 (GnomAD)
C=0.00032/5 (TOMMO)
HGVS:: NC_000001.11:g.246867890dup, NC_000001.11:g.246867890_246867891insCC, NC_000001.11:g.246867890_246867891insCCC, NC_000001.11:g.246867890_246867891insCCCCC, NC_000001.10:g.247031192dup, NC_000001.10:g.247031192_247031193insCC, NC_000001.10:g.247031192_247031193insCCC, NC_000001.10:g.247031192_247031193insCCCCC

Select item 149144051813.

rs1491440518 has merged into rs753977798 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAATCCAAAAAAAAAAAAAAACATAAACAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:246872061 (GRCh38)
1:247035363 (GRCh37)
Canonical SPDI:: NC_000001.11:246872051:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:246872051:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:246872051:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:246872051:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:246872051:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:246872051:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:246872051:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:246872051:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:246872051:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:246872051:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246872051:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246872051:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246872051:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246872051:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246872051:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246872051:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246872051:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246872051:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246872051:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246872051:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246872051:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246872051:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246872051:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246872051:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAATCCAAAAAAAAAAAAAAACATAAACAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246872051:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: AHCTF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000001.11:g.246872061_246872070del, NC_000001.11:g.246872062_246872070del, NC_000001.11:g.246872064_246872070del, NC_000001.11:g.246872065_246872070del, NC_000001.11:g.246872066_246872070del, NC_000001.11:g.246872068_246872070del, NC_000001.11:g.246872069_246872070del, NC_000001.11:g.246872070del, NC_000001.11:g.246872070dup, NC_000001.11:g.246872069_246872070dup, NC_000001.11:g.246872068_246872070dup, NC_000001.11:g.246872067_246872070dup, NC_000001.11:g.246872066_246872070dup, NC_000001.11:g.246872065_246872070dup, NC_000001.11:g.246872064_246872070dup, NC_000001.11:g.246872063_246872070dup, NC_000001.11:g.246872062_246872070dup, NC_000001.11:g.246872061_246872070dup, NC_000001.11:g.246872060_246872070dup, NC_000001.11:g.246872059_246872070dup, NC_000001.11:g.246872056_246872070dup, NC_000001.11:g.246872070_246872071insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.246872070_246872071insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.246872052_246872070A[29]TCCAAAAAAAAAAAAAAACATAAACAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.246872052_246872070A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.247035363_247035372del, NC_000001.10:g.247035364_247035372del, NC_000001.10:g.247035366_247035372del, NC_000001.10:g.247035367_247035372del, NC_000001.10:g.247035368_247035372del, NC_000001.10:g.247035370_247035372del, NC_000001.10:g.247035371_247035372del, NC_000001.10:g.247035372del, NC_000001.10:g.247035372dup, NC_000001.10:g.247035371_247035372dup, NC_000001.10:g.247035370_247035372dup, NC_000001.10:g.247035369_247035372dup, NC_000001.10:g.247035368_247035372dup, NC_000001.10:g.247035367_247035372dup, NC_000001.10:g.247035366_247035372dup, NC_000001.10:g.247035365_247035372dup, NC_000001.10:g.247035364_247035372dup, NC_000001.10:g.247035363_247035372dup, NC_000001.10:g.247035362_247035372dup, NC_000001.10:g.247035361_247035372dup, NC_000001.10:g.247035358_247035372dup, NC_000001.10:g.247035372_247035373insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.247035372_247035373insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.247035354_247035372A[29]TCCAAAAAAAAAAAAAAACATAAACAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.247035354_247035372A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 149143851914.

rs1491438519 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:246930587 (GRCh38)
1:247093890 (GRCh37)
Canonical SPDI:: NC_000001.11:246930587::T
Gene:: AHCTF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000017/2 (GnomAD)
HGVS:: NC_000001.11:g.246930587_246930588insT, NC_000001.10:g.247093889_247093890insT

Select item 149142981715.

rs1491429817 has merged into rs1038477874 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 1:246903660 (GRCh38)
1:247066962 (GRCh37)
Canonical SPDI:: NC_000001.11:246903652:CCCCCCCCCC:CCCCCCC,NC_000001.11:246903652:CCCCCCCCCC:CCCCCCCC,NC_000001.11:246903652:CCCCCCCCCC:CCCCCCCCC,NC_000001.11:246903652:CCCCCCCCCC:CCCCCCCCCCC,NC_000001.11:246903652:CCCCCCCCCC:CCCCCCCCCCCC,NC_000001.11:246903652:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000001.11:246903652:CCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000001.11:246903652:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000001.11:246903652:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC
Gene:: AHCTF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCC=0./0 (ALFA)
-=0.01831/75 (Estonian)
HGVS:: NC_000001.11:g.246903660_246903662del, NC_000001.11:g.246903661_246903662del, NC_000001.11:g.246903662del, NC_000001.11:g.246903662dup, NC_000001.11:g.246903661_246903662dup, NC_000001.11:g.246903660_246903662dup, NC_000001.11:g.246903657_246903662dup, NC_000001.11:g.246903653_246903662dup, NC_000001.11:g.246903662_246903663insCCCCCCCCCCCC, NC_000001.10:g.247066962_247066964del, NC_000001.10:g.247066963_247066964del, NC_000001.10:g.247066964del, NC_000001.10:g.247066964dup, NC_000001.10:g.247066963_247066964dup, NC_000001.10:g.247066962_247066964dup, NC_000001.10:g.247066959_247066964dup, NC_000001.10:g.247066955_247066964dup, NC_000001.10:g.247066964_247066965insCCCCCCCCCCCC

Select item 149142209316.

rs1491422093 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:246924665 (GRCh38)
1:247087968 (GRCh37)
Canonical SPDI:: NC_000001.11:246924665:T:TT
Gene:: AHCTF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000083/22 (TOPMED)
HGVS:: NC_000001.11:g.246924666dup, NC_000001.10:g.247087968dup

Select item 149141697317.

rs1491416973 has merged into rs71680437 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA [Show Flanks]
Chromosome:: 1:246843747 (GRCh38)
1:247007049 (GRCh37)
Canonical SPDI:: NC_000001.11:246843740:AAAAAAAAAAA:AAAAAA,NC_000001.11:246843740:AAAAAAAAAAA:AAAAAAAA,NC_000001.11:246843740:AAAAAAAAAAA:AAAAAAAAA,NC_000001.11:246843740:AAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:246843740:AAAAAAAAAAA:AAAAAAAAAAAA
Gene:: AHCTF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.1038/22 (Vietnamese)
A=0.2189/401 (Korea1K)
A=0.275/11 (GENOME_DK)
-=0.2783/403 (1000Genomes)
A=0.285/171 (NorthernSweden)
HGVS:: NC_000001.11:g.246843747_246843751del, NC_000001.11:g.246843749_246843751del, NC_000001.11:g.246843750_246843751del, NC_000001.11:g.246843751del, NC_000001.11:g.246843751dup, NC_000001.10:g.247007049_247007053del, NC_000001.10:g.247007051_247007053del, NC_000001.10:g.247007052_247007053del, NC_000001.10:g.247007053del, NC_000001.10:g.247007053dup

Select item 149140966518.

rs1491409665 has merged into rs1553287608 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTTT,TTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 1:246857972 (GRCh38)
1:247021274 (GRCh37)
Canonical SPDI:: NC_000001.11:246857964:TTTTTTTTTTTTT:TTTTTTT,NC_000001.11:246857964:TTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:246857964:TTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:246857964:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:246857964:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:246857964:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:246857964:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:246857964:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: AHCTF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.00124/21 (TOMMO)
TTT=0.04385/169 (ALSPAC)
TTT=0.05394/200 (TWINSUK)
HGVS:: NC_000001.11:g.246857972_246857977del, NC_000001.11:g.246857973_246857977del, NC_000001.11:g.246857974_246857977del, NC_000001.11:g.246857976_246857977del, NC_000001.11:g.246857977del, NC_000001.11:g.246857977dup, NC_000001.11:g.246857975_246857977dup, NC_000001.11:g.246857974_246857977dup, NC_000001.10:g.247021274_247021279del, NC_000001.10:g.247021275_247021279del, NC_000001.10:g.247021276_247021279del, NC_000001.10:g.247021278_247021279del, NC_000001.10:g.247021279del, NC_000001.10:g.247021279dup, NC_000001.10:g.247021277_247021279dup, NC_000001.10:g.247021276_247021279dup

Select item 149140363319.

rs1491403633 has merged into rs1158256511 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TTT,TTTTT [Show Flanks]
Chromosome:: 1:246882000 (GRCh38)
1:247045302 (GRCh37)
Canonical SPDI:: NC_000001.11:246881993:TTTTTTTTTT:TTTTTT,NC_000001.11:246881993:TTTTTTTTTT:TTTTTTTTT,NC_000001.11:246881993:TTTTTTTTTT:TTTTTTTTTTT
Gene:: AHCTF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.00218/4 (Korea1K)
HGVS:: NC_000001.11:g.246882000_246882003del, NC_000001.11:g.246882003del, NC_000001.11:g.246882003dup, NC_000001.10:g.247045302_247045305del, NC_000001.10:g.247045305del, NC_000001.10:g.247045305dup

Select item 149139926920.

rs1491399269 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:246930586 (GRCh38)
1:247093888 (GRCh37)
Canonical SPDI:: NC_000001.11:246930585:TA:
Gene:: AHCTF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000093/12 (GnomAD)
HGVS:: NC_000001.11:g.246930586_246930587del, NC_000001.10:g.247093888_247093889del

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