SNP Links for Gene (Select 159989) - SNP

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Select item 14915671051.

rs1491567105 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:93431095 (GRCh38)
11:93164261 (GRCh37)
Canonical SPDI:: NC_000011.10:93431094:CA:
Gene:: DEUP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.93431095_93431096del, NC_000011.9:g.93164261_93164262del

Select item 14915439002.

rs1491543900 has merged into rs1262080448 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 11:93373603 (GRCh38)
11:93106769 (GRCh37)
Canonical SPDI:: NC_000011.10:93373595:TATATATAT:TATATAT,NC_000011.10:93373595:TATATATAT:TATATATATAT
Gene:: DEUP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TATATATATAT=0./0 (ALFA)
TA=0.00002/2 (GnomAD)
HGVS:: NC_000011.10:g.93373597AT[3], NC_000011.10:g.93373597AT[5], NC_000011.9:g.93106763AT[3], NC_000011.9:g.93106763AT[5]

Select item 14915326553.

rs1491532655 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 11:93373653 (GRCh38)
11:93106820 (GRCh37)
Canonical SPDI:: NC_000011.10:93373653:TATATATAT:TATATATATAT
Gene:: DEUP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATAT=0.00008/1 (ALFA)
TA=0.00013/12 (GnomAD)
HGVS:: NC_000011.10:g.93373655AT[5], NC_000011.9:g.93106821AT[5]

Select item 14914973634.

rs1491497363 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 11:93328693 (GRCh38)
11:93061860 (GRCh37)
Canonical SPDI:: NC_000011.10:93328693:G:GAG
Gene:: DEUP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAG=0./0 (ALFA)
GA=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.93328694_93328695insAG, NC_000011.9:g.93061860_93061861insAG

Select item 14914631195.

rs1491463119 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 11:93373595 (GRCh38)
11:93106761 (GRCh37)
Canonical SPDI:: NC_000011.10:93373594:GT:
Gene:: DEUP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000011.10:g.93373595_93373596del, NC_000011.9:g.93106761_93106762del

Select item 14914610916.

rs1491461091 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 11:93373625 (GRCh38)
11:93106791 (GRCh37)
Canonical SPDI:: NC_000011.10:93373624:GT:
Gene:: DEUP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00041/30 (GnomAD)
-=0.01104/160 (TOMMO)
HGVS:: NC_000011.10:g.93373625_93373626del, NC_000011.9:g.93106791_93106792del

Select item 14914429857.

rs1491442985 has merged into rs1555048206 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 11:93373613 (GRCh38)
11:93106779 (GRCh37)
Canonical SPDI:: NC_000011.10:93373611:TGT:T,NC_000011.10:93373611:TGT:TGTGT
Gene:: DEUP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0.00008/1 (ALFA)
-=0.00493/416 (GnomAD)
HGVS:: NC_000011.10:g.93373613_93373614del, NC_000011.10:g.93373613_93373614dup, NC_000011.9:g.93106779_93106780del, NC_000011.9:g.93106779_93106780dup

Select item 14914300268.

rs1491430026 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT,ATAT,ATATAT [Show Flanks]
Chromosome:: 11:93438620 (GRCh38)
11:93171787 (GRCh37)
Canonical SPDI:: NC_000011.10:93438620:T:TAT,NC_000011.10:93438620:T:TATAT,NC_000011.10:93438620:T:TATATAT
Gene:: DEUP1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATAT=0./0 (ALFA)
TA=0.00081/14 (TOMMO)
HGVS:: NC_000011.10:g.93438621_93438622insAT, NC_000011.10:g.93438621_93438622insATAT, NC_000011.10:g.93438622AT[3], NC_000011.9:g.93171787_93171788insAT, NC_000011.9:g.93171787_93171788insATAT, NC_000011.9:g.93171788AT[3]

Select item 14914229319.

rs1491422931 has merged into rs57417014 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:93391722 (GRCh38)
11:93124888 (GRCh37)
Canonical SPDI:: NC_000011.10:93391707:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:93391707:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:93391707:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:93391707:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:93391707:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:93391707:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:93391707:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93391707:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93391707:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93391707:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93391707:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DEUP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.93391722_93391728del, NC_000011.10:g.93391724_93391728del, NC_000011.10:g.93391725_93391728del, NC_000011.10:g.93391726_93391728del, NC_000011.10:g.93391727_93391728del, NC_000011.10:g.93391728del, NC_000011.10:g.93391728dup, NC_000011.10:g.93391727_93391728dup, NC_000011.10:g.93391726_93391728dup, NC_000011.10:g.93391725_93391728dup, NC_000011.10:g.93391724_93391728dup, NC_000011.9:g.93124888_93124894del, NC_000011.9:g.93124890_93124894del, NC_000011.9:g.93124891_93124894del, NC_000011.9:g.93124892_93124894del, NC_000011.9:g.93124893_93124894del, NC_000011.9:g.93124894del, NC_000011.9:g.93124894dup, NC_000011.9:g.93124893_93124894dup, NC_000011.9:g.93124892_93124894dup, NC_000011.9:g.93124891_93124894dup, NC_000011.9:g.93124890_93124894dup

Select item 149139939510.

rs1491399395 has merged into rs71064741 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:93329052 (GRCh38)
11:93062218 (GRCh37)
Canonical SPDI:: NC_000011.10:93329041:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:93329041:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:93329041:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:93329041:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:93329041:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:93329041:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:93329041:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:93329041:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:93329041:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:93329041:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93329041:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93329041:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93329041:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93329041:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93329041:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93329041:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93329041:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93329041:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DEUP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.93329052_93329058del, NC_000011.10:g.93329054_93329058del, NC_000011.10:g.93329055_93329058del, NC_000011.10:g.93329056_93329058del, NC_000011.10:g.93329057_93329058del, NC_000011.10:g.93329058del, NC_000011.10:g.93329058dup, NC_000011.10:g.93329057_93329058dup, NC_000011.10:g.93329056_93329058dup, NC_000011.10:g.93329055_93329058dup, NC_000011.10:g.93329054_93329058dup, NC_000011.10:g.93329053_93329058dup, NC_000011.10:g.93329052_93329058dup, NC_000011.10:g.93329051_93329058dup, NC_000011.10:g.93329050_93329058dup, NC_000011.10:g.93329049_93329058dup, NC_000011.10:g.93329048_93329058dup, NC_000011.10:g.93329045_93329058dup, NC_000011.9:g.93062218_93062224del, NC_000011.9:g.93062220_93062224del, NC_000011.9:g.93062221_93062224del, NC_000011.9:g.93062222_93062224del, NC_000011.9:g.93062223_93062224del, NC_000011.9:g.93062224del, NC_000011.9:g.93062224dup, NC_000011.9:g.93062223_93062224dup, NC_000011.9:g.93062222_93062224dup, NC_000011.9:g.93062221_93062224dup, NC_000011.9:g.93062220_93062224dup, NC_000011.9:g.93062219_93062224dup, NC_000011.9:g.93062218_93062224dup, NC_000011.9:g.93062217_93062224dup, NC_000011.9:g.93062216_93062224dup, NC_000011.9:g.93062215_93062224dup, NC_000011.9:g.93062214_93062224dup, NC_000011.9:g.93062211_93062224dup

Select item 149138206211.

rs1491382062 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 11:93373624 (GRCh38)
11:93106790 (GRCh37)
Canonical SPDI:: NC_000011.10:93373623:CG:
Gene:: DEUP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.34455/4087 (ALFA)
CG=0.20887/1046 (1000Genomes)
-=0.38091/5394 (TOMMO)
CG=0.41111/74 (Vietnamese)
CG=0.4375/14 (GENOME_DK)
CG=0.45507/44830 (GnomAD)
CG=0.47331/266 (NorthernSweden)
HGVS:: NC_000011.10:g.93373624_93373625del, NC_000011.9:g.93106790_93106791del

Select item 149136273212.

rs1491362732 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 11:93373605 (GRCh38)
11:93106771 (GRCh37)
Canonical SPDI:: NC_000011.10:93373603:TTT:T
Gene:: DEUP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.001349/16 (ALFA)
-=0.000049/5 (GnomAD)
HGVS:: NC_000011.10:g.93373605_93373606del, NC_000011.9:g.93106771_93106772del

Select item 149134981013.

rs1491349810 has merged into rs1228305437 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 11:93393104 (GRCh38)
11:93126270 (GRCh37)
Canonical SPDI:: NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: DEUP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.93393104_93393105del, NC_000011.10:g.93393105del, NC_000011.10:g.93393105dup, NC_000011.10:g.93393104_93393105dup, NC_000011.10:g.93393103_93393105dup, NC_000011.10:g.93393102_93393105dup, NC_000011.10:g.93393101_93393105dup, NC_000011.9:g.93126270_93126271del, NC_000011.9:g.93126271del, NC_000011.9:g.93126271dup, NC_000011.9:g.93126270_93126271dup, NC_000011.9:g.93126269_93126271dup, NC_000011.9:g.93126268_93126271dup, NC_000011.9:g.93126267_93126271dup

Select item 149133389214.

rs1491333892 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 11:93393088 (GRCh38)
11:93126255 (GRCh37)
Canonical SPDI:: NC_000011.10:93393088:T:TCT
Gene:: DEUP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
HGVS:: NC_000011.10:g.93393089_93393090insCT, NC_000011.9:g.93126255_93126256insCT

Select item 149132479815.

rs1491324798 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAAAAA,TAAAAAA [Show Flanks]
Chromosome:: 11:93329042 (GRCh38)
11:93062209 (GRCh37)
Canonical SPDI:: NC_000011.10:93329042:AAAAAA:AAAAAAGAAAAAA,NC_000011.10:93329042:AAAAAA:AAAAAATAAAAAA
Gene:: DEUP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAGAAAAAA=0./0 (ALFA)
AAAAAAG=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.93329043_93329048A[6]GAAAAAA[1], NC_000011.10:g.93329043_93329048A[6]TAAAAAA[1], NC_000011.9:g.93062209_93062214A[6]GAAAAAA[1], NC_000011.9:g.93062209_93062214A[6]TAAAAAA[1]

Select item 149128864416.

rs1491288644 has merged into rs35572726 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAACAAAAAAATAAAAAAACTAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAACAAAAAAGTAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAACCAAAAAAATAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAACTAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACCAGCAGAAAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:93360915 (GRCh38)
11:93094081 (GRCh37)
Canonical SPDI:: NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAATAAAAAAACTAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAACAAAAAAGTAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAACCAAAAAAATAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAACTAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93360905:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAACCAGCAGAAAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DEUP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.93360915_93360924del, NC_000011.10:g.93360916_93360924del, NC_000011.10:g.93360917_93360924del, NC_000011.10:g.93360918_93360924del, NC_000011.10:g.93360919_93360924del, NC_000011.10:g.93360921_93360924del, NC_000011.10:g.93360922_93360924del, NC_000011.10:g.93360923_93360924del, NC_000011.10:g.93360924del, NC_000011.10:g.93360924dup, NC_000011.10:g.93360923_93360924dup, NC_000011.10:g.93360922_93360924dup, NC_000011.10:g.93360920_93360924dup, NC_000011.10:g.93360918_93360924dup, NC_000011.10:g.93360916_93360924dup, NC_000011.10:g.93360914_93360924dup, NC_000011.10:g.93360907_93360924dup, NC_000011.10:g.93360906_93360924dup, NC_000011.10:g.93360924_93360925insAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.93360924_93360925insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.93360924_93360925insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.93360924_93360925insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.93360906_93360924A[27]CAAAAAAATAAAAAAACTAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.10:g.93360906_93360924A[25]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.10:g.93360906_93360924A[24]CAAAAAAGTAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.10:g.93360906_93360924A[24]CCAAAAAAATAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.10:g.93360906_93360924A[24]CTAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.10:g.93360906_93360924A[23]CCAGCAGAAAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.93094081_93094090del, NC_000011.9:g.93094082_93094090del, NC_000011.9:g.93094083_93094090del, NC_000011.9:g.93094084_93094090del, NC_000011.9:g.93094085_93094090del, NC_000011.9:g.93094087_93094090del, NC_000011.9:g.93094088_93094090del, NC_000011.9:g.93094089_93094090del, NC_000011.9:g.93094090del, NC_000011.9:g.93094090dup, NC_000011.9:g.93094089_93094090dup, NC_000011.9:g.93094088_93094090dup, NC_000011.9:g.93094086_93094090dup, NC_000011.9:g.93094084_93094090dup, NC_000011.9:g.93094082_93094090dup, NC_000011.9:g.93094080_93094090dup, NC_000011.9:g.93094073_93094090dup, NC_000011.9:g.93094072_93094090dup, NC_000011.9:g.93094090_93094091insAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.93094090_93094091insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.93094090_93094091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.93094090_93094091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.93094072_93094090A[27]CAAAAAAATAAAAAAACTAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.93094072_93094090A[25]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.93094072_93094090A[24]CAAAAAAGTAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.93094072_93094090A[24]CCAAAAAAATAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.93094072_93094090A[24]CTAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.93094072_93094090A[23]CCAGCAGAAAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 149126401517.

rs1491264015 has merged into rs1555068657 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>-,ACAC [Show Flanks]
Chromosome:: 11:93437753 (GRCh38)
11:93170919 (GRCh37)
Canonical SPDI:: NC_000011.10:93437751:CAC:C,NC_000011.10:93437751:CAC:CACAC
Gene:: DEUP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACAC=0.000084/1 (ALFA)
CA=0.000198/21 (GnomAD)
HGVS:: NC_000011.10:g.93437753_93437754del, NC_000011.10:g.93437753_93437754dup, NC_000011.9:g.93170919_93170920del, NC_000011.9:g.93170919_93170920dup, NM_181645.4:c.*34_*35del, NM_181645.4:c.*34_*35dup, NM_181645.3:c.*34_*35del, NM_181645.3:c.*34_*35dup, XM_011542631.3:c.*34_*35del, XM_011542631.3:c.*34_*35dup, XM_011542631.2:c.*34_*35del, XM_011542631.2:c.*34_*35dup, XM_011542631.1:c.*34_*35del, XM_011542631.1:c.*34_*35dup, XM_011542629.3:c.*34_*35del, XM_011542629.3:c.*34_*35dup, XM_011542629.2:c.*34_*35del, XM_011542629.2:c.*34_*35dup, XM_011542629.1:c.*34_*35del, XM_011542629.1:c.*34_*35dup, XM_011542633.3:c.*117_*118del, XM_011542633.3:c.*117_*118dup, XM_011542635.3:c.*34_*35del, XM_011542635.3:c.*34_*35dup, XM_011542635.2:c.*34_*35del, XM_011542635.2:c.*34_*35dup, XM_011542635.1:c.*34_*35del, XM_011542635.1:c.*34_*35dup, XM_011542636.3:c.*34_*35del, XM_011542636.3:c.*34_*35dup, XM_011542636.2:c.*34_*35del, XM_011542636.2:c.*34_*35dup, XM_011542636.1:c.*34_*35del, XM_011542636.1:c.*34_*35dup, XM_011542638.3:c.*34_*35del, XM_011542638.3:c.*34_*35dup, XM_011542638.2:c.*34_*35del, XM_011542638.2:c.*34_*35dup, XM_011542638.1:c.*34_*35del, XM_011542638.1:c.*34_*35dup, XM_011542630.2:c.*34_*35del, XM_011542630.2:c.*34_*35dup, XM_011542630.1:c.*34_*35del, XM_011542630.1:c.*34_*35dup, XM_005273802.2:c.*34_*35del, XM_005273802.2:c.*34_*35dup, XM_005273802.1:c.*34_*35del, XM_005273802.1:c.*34_*35dup, XR_007062456.1:n.2240_2241del, XR_007062456.1:n.2240_2241dup, XM_047426455.1:c.*34_*35del, XM_047426455.1:c.*34_*35dup

Select item 149125365818.

rs1491253658 has merged into rs11331603 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:93413256 (GRCh38)
11:93146422 (GRCh37)
Canonical SPDI:: NC_000011.10:93413241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:93413241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:93413241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:93413241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:93413241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:93413241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:93413241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:93413241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:93413241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DEUP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.2143/1073 (1000Genomes)
-=0.219/844 (ALSPAC)
T=0.415/249 (NorthernSweden)
HGVS:: NC_000011.10:g.93413256_93413259del, NC_000011.10:g.93413257_93413259del, NC_000011.10:g.93413258_93413259del, NC_000011.10:g.93413259del, NC_000011.10:g.93413259dup, NC_000011.10:g.93413258_93413259dup, NC_000011.10:g.93413257_93413259dup, NC_000011.10:g.93413256_93413259dup, NC_000011.10:g.93413252_93413259dup, NC_000011.9:g.93146422_93146425del, NC_000011.9:g.93146423_93146425del, NC_000011.9:g.93146424_93146425del, NC_000011.9:g.93146425del, NC_000011.9:g.93146425dup, NC_000011.9:g.93146424_93146425dup, NC_000011.9:g.93146423_93146425dup, NC_000011.9:g.93146422_93146425dup, NC_000011.9:g.93146418_93146425dup

Select item 149123548919.

rs1491235489 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTAT,CTCTAT [Show Flanks]
Chromosome:: 11:93438622 (GRCh38)
11:93171789 (GRCh37)
Canonical SPDI:: NC_000011.10:93438622:T:TCTAT,NC_000011.10:93438622:T:TCTCTAT
Gene:: DEUP1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTAT=0./0 (ALFA)
TCTA=0./0 (GnomAD)
TCTCTA=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.93438623_93438624insCTAT, NC_000011.10:g.93438623TC[2]TAT[1], NC_000011.9:g.93171789_93171790insCTAT, NC_000011.9:g.93171789TC[2]TAT[1]

Select item 149122174520.

rs1491221745 has merged into rs1555048258 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATGTATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 11:93373640 (GRCh38)
11:93106806 (GRCh37)
Canonical SPDI:: NC_000011.10:93373625:TATATATATATATATATATATATATA:TATATATATATATA,NC_000011.10:93373625:TATATATATATATATATATATATATA:TATATATATATATATA,NC_000011.10:93373625:TATATATATATATATATATATATATA:TATATATATATATATATA,NC_000011.10:93373625:TATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000011.10:93373625:TATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000011.10:93373625:TATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000011.10:93373625:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000011.10:93373625:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000011.10:93373625:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000011.10:93373625:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000011.10:93373625:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000011.10:93373625:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000011.10:93373625:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000011.10:93373625:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:93373625:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:93373625:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:93373625:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATATGTATATATATATATATATATATATATATA
Gene:: DEUP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATA=0./0 (ALFA)
TA=0.2787/17 (Vietnamese)
HGVS:: NC_000011.10:g.93373626TA[7], NC_000011.10:g.93373626TA[8], NC_000011.10:g.93373626TA[9], NC_000011.10:g.93373626TA[10], NC_000011.10:g.93373626TA[11], NC_000011.10:g.93373626TA[12], NC_000011.10:g.93373626TA[14], NC_000011.10:g.93373626TA[15], NC_000011.10:g.93373626TA[16], NC_000011.10:g.93373626TA[17], NC_000011.10:g.93373626TA[18], NC_000011.10:g.93373626TA[19], NC_000011.10:g.93373626TA[20], NC_000011.10:g.93373626TA[21], NC_000011.10:g.93373626TA[22], NC_000011.10:g.93373626TA[27], NC_000011.10:g.93373626_93373651TA[14]TGTATATATATATATATATATATATATATA[1], NC_000011.9:g.93106792TA[7], NC_000011.9:g.93106792TA[8], NC_000011.9:g.93106792TA[9], NC_000011.9:g.93106792TA[10], NC_000011.9:g.93106792TA[11], NC_000011.9:g.93106792TA[12], NC_000011.9:g.93106792TA[14], NC_000011.9:g.93106792TA[15], NC_000011.9:g.93106792TA[16], NC_000011.9:g.93106792TA[17], NC_000011.9:g.93106792TA[18], NC_000011.9:g.93106792TA[19], NC_000011.9:g.93106792TA[20], NC_000011.9:g.93106792TA[21], NC_000011.9:g.93106792TA[22], NC_000011.9:g.93106792TA[27], NC_000011.9:g.93106792_93106817TA[14]TGTATATATATATATATATATATATATATA[1]

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