SNP Links for Gene (Select 57116) - SNP

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Select item 14915888911.

rs1491588891 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:246995813 (GRCh38)
1:247159115 (GRCh37)
Canonical SPDI:: NC_000001.11:246995812:CA:
Gene:: ZNF695 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00076/9 (ALFA)
HGVS:: NC_000001.11:g.246995813_246995814del, NC_000001.10:g.247159115_247159116del

Select item 14915532582.

rs1491553258 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 1:246952550 (GRCh38)
1:247115853 (GRCh37)
Canonical SPDI:: NC_000001.11:246952550:T:TCT
Gene:: ZNF695 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
TC=0.00006/2 (GnomAD)
HGVS:: NC_000001.11:g.246952551_246952552insCT, NC_000001.10:g.247115853_247115854insCT

Select item 14915524943.

rs1491552494 has merged into rs1020710400 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTGT [Show Flanks]
Chromosome:: 1:246997565 (GRCh38)
1:247160867 (GRCh37)
Canonical SPDI:: NC_000001.11:246997553:TGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000001.11:246997553:TGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000001.11:246997553:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000001.11:246997553:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT
Gene:: ZNF695 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGT=0./0 (ALFA)
TG=0.00096/16 (TOMMO)
TG=0.00109/2 (Korea1K)
HGVS:: NC_000001.11:g.246997555GT[5], NC_000001.11:g.246997555GT[6], NC_000001.11:g.246997555GT[8], NC_000001.11:g.246997555GT[9], NC_000001.10:g.247160857GT[5], NC_000001.10:g.247160857GT[6], NC_000001.10:g.247160857GT[8], NC_000001.10:g.247160857GT[9]

Select item 14915117394.

rs1491511739 has merged into rs200143022 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:246950660 (GRCh38)
1:247113962 (GRCh37)
Canonical SPDI:: NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF695 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAA=0./0 (GENOME_DK)
-=0.1218/610 (1000Genomes)
HGVS:: NC_000001.11:g.246950660_246950677del, NC_000001.11:g.246950662_246950677del, NC_000001.11:g.246950663_246950677del, NC_000001.11:g.246950664_246950677del, NC_000001.11:g.246950665_246950677del, NC_000001.11:g.246950666_246950677del, NC_000001.11:g.246950667_246950677del, NC_000001.11:g.246950668_246950677del, NC_000001.11:g.246950669_246950677del, NC_000001.11:g.246950670_246950677del, NC_000001.11:g.246950671_246950677del, NC_000001.11:g.246950672_246950677del, NC_000001.11:g.246950673_246950677del, NC_000001.11:g.246950674_246950677del, NC_000001.11:g.246950675_246950677del, NC_000001.11:g.246950676_246950677del, NC_000001.11:g.246950677del, NC_000001.11:g.246950677dup, NC_000001.11:g.246950676_246950677dup, NC_000001.11:g.246950675_246950677dup, NC_000001.11:g.246950674_246950677dup, NC_000001.11:g.246950673_246950677dup, NC_000001.11:g.246950672_246950677dup, NC_000001.11:g.246950671_246950677dup, NC_000001.11:g.246950665_246950677dup, NC_000001.10:g.247113962_247113979del, NC_000001.10:g.247113964_247113979del, NC_000001.10:g.247113965_247113979del, NC_000001.10:g.247113966_247113979del, NC_000001.10:g.247113967_247113979del, NC_000001.10:g.247113968_247113979del, NC_000001.10:g.247113969_247113979del, NC_000001.10:g.247113970_247113979del, NC_000001.10:g.247113971_247113979del, NC_000001.10:g.247113972_247113979del, NC_000001.10:g.247113973_247113979del, NC_000001.10:g.247113974_247113979del, NC_000001.10:g.247113975_247113979del, NC_000001.10:g.247113976_247113979del, NC_000001.10:g.247113977_247113979del, NC_000001.10:g.247113978_247113979del, NC_000001.10:g.247113979del, NC_000001.10:g.247113979dup, NC_000001.10:g.247113978_247113979dup, NC_000001.10:g.247113977_247113979dup, NC_000001.10:g.247113976_247113979dup, NC_000001.10:g.247113975_247113979dup, NC_000001.10:g.247113974_247113979dup, NC_000001.10:g.247113973_247113979dup, NC_000001.10:g.247113967_247113979dup

Select item 14914400555.

rs1491440055 has merged into rs60375785 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:246995823 (GRCh38)
1:247159125 (GRCh37)
Canonical SPDI:: NC_000001.11:246995813:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:246995813:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:246995813:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:246995813:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:246995813:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:246995813:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:246995813:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:246995813:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:246995813:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:246995813:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:246995813:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:246995813:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246995813:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246995813:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246995813:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246995813:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246995813:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246995813:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246995813:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246995813:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246995813:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246995813:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246995813:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246995813:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246995813:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF695 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.246995823_246995837del, NC_000001.11:g.246995824_246995837del, NC_000001.11:g.246995825_246995837del, NC_000001.11:g.246995826_246995837del, NC_000001.11:g.246995827_246995837del, NC_000001.11:g.246995828_246995837del, NC_000001.11:g.246995829_246995837del, NC_000001.11:g.246995830_246995837del, NC_000001.11:g.246995831_246995837del, NC_000001.11:g.246995832_246995837del, NC_000001.11:g.246995834_246995837del, NC_000001.11:g.246995835_246995837del, NC_000001.11:g.246995836_246995837del, NC_000001.11:g.246995837del, NC_000001.11:g.246995837dup, NC_000001.11:g.246995836_246995837dup, NC_000001.11:g.246995835_246995837dup, NC_000001.11:g.246995834_246995837dup, NC_000001.11:g.246995833_246995837dup, NC_000001.11:g.246995832_246995837dup, NC_000001.11:g.246995831_246995837dup, NC_000001.11:g.246995830_246995837dup, NC_000001.11:g.246995829_246995837dup, NC_000001.11:g.246995828_246995837dup, NC_000001.11:g.246995837_246995838insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.247159125_247159139del, NC_000001.10:g.247159126_247159139del, NC_000001.10:g.247159127_247159139del, NC_000001.10:g.247159128_247159139del, NC_000001.10:g.247159129_247159139del, NC_000001.10:g.247159130_247159139del, NC_000001.10:g.247159131_247159139del, NC_000001.10:g.247159132_247159139del, NC_000001.10:g.247159133_247159139del, NC_000001.10:g.247159134_247159139del, NC_000001.10:g.247159136_247159139del, NC_000001.10:g.247159137_247159139del, NC_000001.10:g.247159138_247159139del, NC_000001.10:g.247159139del, NC_000001.10:g.247159139dup, NC_000001.10:g.247159138_247159139dup, NC_000001.10:g.247159137_247159139dup, NC_000001.10:g.247159136_247159139dup, NC_000001.10:g.247159135_247159139dup, NC_000001.10:g.247159134_247159139dup, NC_000001.10:g.247159133_247159139dup, NC_000001.10:g.247159132_247159139dup, NC_000001.10:g.247159131_247159139dup, NC_000001.10:g.247159130_247159139dup, NC_000001.10:g.247159139_247159140insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914247856.

rs1491424785 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:246972928 (GRCh38)
1:247136231 (GRCh37)
Canonical SPDI:: NC_000001.11:246972928:G:GG
Gene:: ZNF695 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.246972929dup, NC_000001.10:g.247136231dup

Select item 14913903597.

rs1491390359 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAAA [Show Flanks]
Chromosome:: 1:247008858 (GRCh38)
1:247172161 (GRCh37)
Canonical SPDI:: NC_000001.11:247008858:AAAACAAAACAAAACAAAA:AAAACAAAACAAAACAAAACAAAA
Gene:: ZNF695 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAACAAAACAAAACAAAACAAAA=0.000169/2 (ALFA)
AAAAC=0.000156/1 (1000Genomes)
AAAAC=0.000499/70 (GnomAD)
AAAAC=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.247008863CAAAA[4], NC_000001.10:g.247172165CAAAA[4]

Select item 14913117748.

rs1491311774 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:247008861 (GRCh38)
1:247172163 (GRCh37)
Canonical SPDI:: NC_000001.11:247008857:AAAAA:AAA
Gene:: ZNF695 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AAA=0.000142/2 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.247008861_247008862del, NC_000001.10:g.247172163_247172164del

Select item 14912951059.

rs1491295105 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACACACACACACATA,CACACACACACATA,CACACACACATA,CACACACATA,CACACATA,CATA [Show Flanks]
Chromosome:: 1:247008375 (GRCh38)
1:247171678 (GRCh37)
Canonical SPDI:: NC_000001.11:247008375:A:ACACACACACACACATA,NC_000001.11:247008375:A:ACACACACACACATA,NC_000001.11:247008375:A:ACACACACACATA,NC_000001.11:247008375:A:ACACACACATA,NC_000001.11:247008375:A:ACACACATA,NC_000001.11:247008375:A:ACATA
Gene:: ZNF695 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACATA=0./0 (ALFA)
ACAT=0.000004/1 (TOPMED)
ACAT=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.247008376AC[7]ATA[1], NC_000001.11:g.247008376AC[6]ATA[1], NC_000001.11:g.247008376AC[5]ATA[1], NC_000001.11:g.247008376AC[4]ATA[1], NC_000001.11:g.247008376AC[3]ATA[1], NC_000001.11:g.247008376_247008377insCATA, NC_000001.10:g.247171678AC[7]ATA[1], NC_000001.10:g.247171678AC[6]ATA[1], NC_000001.10:g.247171678AC[5]ATA[1], NC_000001.10:g.247171678AC[4]ATA[1], NC_000001.10:g.247171678AC[3]ATA[1], NC_000001.10:g.247171678_247171679insCATA

Select item 149128155110.

rs1491281551 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:246984152 (GRCh38)
1:247147454 (GRCh37)
Canonical SPDI:: NC_000001.11:246984151:CA:
Gene:: ZNF695 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.246984152_246984153del, NC_000001.10:g.247147454_247147455del

Select item 149127367011.

rs1491273670 has merged into rs56131097 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:247001723 (GRCh38)
1:247165025 (GRCh37)
Canonical SPDI:: NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:247001712:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF695 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.375/15 (GENOME_DK)
HGVS:: NC_000001.11:g.247001723_247001734del, NC_000001.11:g.247001725_247001734del, NC_000001.11:g.247001726_247001734del, NC_000001.11:g.247001728_247001734del, NC_000001.11:g.247001729_247001734del, NC_000001.11:g.247001730_247001734del, NC_000001.11:g.247001731_247001734del, NC_000001.11:g.247001732_247001734del, NC_000001.11:g.247001733_247001734del, NC_000001.11:g.247001734del, NC_000001.11:g.247001734dup, NC_000001.11:g.247001733_247001734dup, NC_000001.11:g.247001732_247001734dup, NC_000001.11:g.247001731_247001734dup, NC_000001.11:g.247001730_247001734dup, NC_000001.11:g.247001729_247001734dup, NC_000001.11:g.247001728_247001734dup, NC_000001.11:g.247001727_247001734dup, NC_000001.11:g.247001724_247001734dup, NC_000001.11:g.247001723_247001734dup, NC_000001.11:g.247001722_247001734dup, NC_000001.11:g.247001721_247001734dup, NC_000001.11:g.247001720_247001734dup, NC_000001.11:g.247001719_247001734dup, NC_000001.11:g.247001718_247001734dup, NC_000001.11:g.247001734_247001735insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.247165025_247165036del, NC_000001.10:g.247165027_247165036del, NC_000001.10:g.247165028_247165036del, NC_000001.10:g.247165030_247165036del, NC_000001.10:g.247165031_247165036del, NC_000001.10:g.247165032_247165036del, NC_000001.10:g.247165033_247165036del, NC_000001.10:g.247165034_247165036del, NC_000001.10:g.247165035_247165036del, NC_000001.10:g.247165036del, NC_000001.10:g.247165036dup, NC_000001.10:g.247165035_247165036dup, NC_000001.10:g.247165034_247165036dup, NC_000001.10:g.247165033_247165036dup, NC_000001.10:g.247165032_247165036dup, NC_000001.10:g.247165031_247165036dup, NC_000001.10:g.247165030_247165036dup, NC_000001.10:g.247165029_247165036dup, NC_000001.10:g.247165026_247165036dup, NC_000001.10:g.247165025_247165036dup, NC_000001.10:g.247165024_247165036dup, NC_000001.10:g.247165023_247165036dup, NC_000001.10:g.247165022_247165036dup, NC_000001.10:g.247165021_247165036dup, NC_000001.10:g.247165020_247165036dup, NC_000001.10:g.247165036_247165037insAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149124720812.

rs1491247208 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:246984280 (GRCh38)
1:247147582 (GRCh37)
Canonical SPDI:: NC_000001.11:246984279:TA:
Gene:: ZNF695 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000424/49 (GnomAD)
-=0.016004/29 (Korea1K)
HGVS:: NC_000001.11:g.246984280_246984281del, NC_000001.10:g.247147582_247147583del

Select item 149122311613.

rs1491223116 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:247001712 (GRCh38)
1:247165014 (GRCh37)
Canonical SPDI:: NC_000001.11:247001711:CA:
Gene:: ZNF695 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.04772/566 (ALFA)
-=0.00312/73 (GnomAD)
-=0.01188/192 (TOMMO)
HGVS:: NC_000001.11:g.247001712_247001713del, NC_000001.10:g.247165014_247165015del

Select item 149117828114.

rs1491178281 has merged into rs1278200712 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:246984290 (GRCh38)
1:247147592 (GRCh37)
Canonical SPDI:: NC_000001.11:246984280:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:246984280:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:246984280:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:246984280:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:246984280:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:246984280:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:246984280:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246984280:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246984280:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:246984280:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF695 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.01883/9 (NorthernSweden)
HGVS:: NC_000001.11:g.246984290_246984300del, NC_000001.11:g.246984294_246984300del, NC_000001.11:g.246984297_246984300del, NC_000001.11:g.246984298_246984300del, NC_000001.11:g.246984299_246984300del, NC_000001.11:g.246984300del, NC_000001.11:g.246984300dup, NC_000001.11:g.246984299_246984300dup, NC_000001.11:g.246984298_246984300dup, NC_000001.11:g.246984296_246984300dup, NC_000001.10:g.247147592_247147602del, NC_000001.10:g.247147596_247147602del, NC_000001.10:g.247147599_247147602del, NC_000001.10:g.247147600_247147602del, NC_000001.10:g.247147601_247147602del, NC_000001.10:g.247147602del, NC_000001.10:g.247147602dup, NC_000001.10:g.247147601_247147602dup, NC_000001.10:g.247147600_247147602dup, NC_000001.10:g.247147598_247147602dup

Select item 149117730515.

rs1491177305 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:246950650 (GRCh38)
1:247113952 (GRCh37)
Canonical SPDI:: NC_000001.11:246950649:CA:
Gene:: ZNF695 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00261/31 (ALFA)
-=0.00036/10 (TOMMO)
HGVS:: NC_000001.11:g.246950650_246950651del, NC_000001.10:g.247113952_247113953del

Select item 149108062116.

rs1491080621 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:246974149 (GRCh38)
1:247137452 (GRCh37)
Canonical SPDI:: NC_000001.11:246974149:AAA:AAAA
Gene:: ZNF695 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.028018/862 (GnomAD)
HGVS:: NC_000001.11:g.246974152dup, NC_000001.10:g.247137454dup

Select item 149107321017.

rs1491073210 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 1:247008380 (GRCh38)
1:247171682 (GRCh37)
Canonical SPDI:: NC_000001.11:247008375:ATATATAT:ATAT,NC_000001.11:247008375:ATATATAT:ATATAT,NC_000001.11:247008375:ATATATAT:ATATATATAT
Gene:: ZNF695 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0./0 (ALFA)
-=0.00109/2 (Korea1K)
-=0.00131/22 (TOMMO)
HGVS:: NC_000001.11:g.247008376AT[2], NC_000001.11:g.247008376AT[3], NC_000001.11:g.247008376AT[5], NC_000001.10:g.247171678AT[2], NC_000001.10:g.247171678AT[3], NC_000001.10:g.247171678AT[5]

Select item 149099705018.

rs1490997050 has merged into rs1459530224 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 1:247006233 (GRCh38)
1:247169535 (GRCh37)
Canonical SPDI:: NC_000001.11:247006224:AAAAAAAAAA:AAAAAAAA,NC_000001.11:247006224:AAAAAAAAAA:AAAAAAAAA,NC_000001.11:247006224:AAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:247006224:AAAAAAAAAA:AAAAAAAAAAAA
Gene:: ZNF695 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0.00011/2 (ALFA)
A=0.00028/5 (TOMMO)
HGVS:: NC_000001.11:g.247006233_247006234del, NC_000001.11:g.247006234del, NC_000001.11:g.247006234dup, NC_000001.11:g.247006233_247006234dup, NC_000001.10:g.247169535_247169536del, NC_000001.10:g.247169536del, NC_000001.10:g.247169536dup, NC_000001.10:g.247169535_247169536dup

Select item 149098554019.

rs1490985540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:246959144 (GRCh38)
1:247122446 (GRCh37)
Canonical SPDI:: NC_000001.11:246959143:G:A
Gene:: ZNF695 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.246959144G>A, NC_000001.10:g.247122446G>A

Select item 149098245720.

rs1490982457 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:246961155 (GRCh38)
1:247124457 (GRCh37)
Canonical SPDI:: NC_000001.11:246961154:T:C
Gene:: ZNF695 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.246961155T>C, NC_000001.10:g.247124457T>C

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