SNP Links for Gene (Select 100533111) - 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 14915682192.

rs1491568219 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACACA [Show Flanks]
Chromosome:: 1:247072840 (GRCh38)
1:247236143 (GRCh37)
Canonical SPDI:: NC_000001.11:247072840:CATACACA:CATACACATACACA
Gene:: ZNF670 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CATACACATACACA=0.00034/4 (ALFA)
CATACA=0.00187/84 (GnomAD)
CATACA=0.00376/2 (NorthernSweden)
CATACA=0.01475/244 (TOMMO)
HGVS:: NC_000001.11:g.247072843_247072848dup, NC_000001.10:g.247236145_247236150dup

Select item 14915606053.

rs1491560605 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC,ACAC,ACACAC,ATAC,ATATAC,ATATATAC,ATATATACATAC,ATATATATAC,ATATATATATAC,ATATATATATATACACACACAC [Show Flanks]
Chromosome:: 1:247072839 (GRCh38)
1:247236142 (GRCh37)
Canonical SPDI:: NC_000001.11:247072839::AC,NC_000001.11:247072839::ACAC,NC_000001.11:247072839::ACACAC,NC_000001.11:247072839::ATAC,NC_000001.11:247072839::ATATAC,NC_000001.11:247072839::ATATATAC,NC_000001.11:247072839::ATATATACATAC,NC_000001.11:247072839::ATATATATAC,NC_000001.11:247072839::ATATATATATAC,NC_000001.11:247072839::ATATATATATATACACACACAC
Gene:: ZNF670 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAC=0./0 (ALFA)
ATATATAC=0.000004/1 (TOPMED)
ATATATATATAC=0.000239/4 (TOMMO)
HGVS:: NC_000001.11:g.247072839_247072840insAC, NC_000001.11:g.247072839_247072840insACAC, NC_000001.11:g.247072839_247072840insACACAC, NC_000001.11:g.247072839_247072840insATAC, NC_000001.11:g.247072839_247072840insATATAC, NC_000001.11:g.247072839_247072840insATATATAC, NC_000001.11:g.247072839_247072840insATATATACATAC, NC_000001.11:g.247072839_247072840insATATATATAC, NC_000001.11:g.247072839_247072840insATATATATATAC, NC_000001.11:g.247072839_247072840insATATATATATATACACACACAC, NC_000001.10:g.247236141_247236142insAC, NC_000001.10:g.247236141_247236142insACAC, NC_000001.10:g.247236141_247236142insACACAC, NC_000001.10:g.247236141_247236142insATAC, NC_000001.10:g.247236141_247236142insATATAC, NC_000001.10:g.247236141_247236142insATATATAC, NC_000001.10:g.247236141_247236142insATATATACATAC, NC_000001.10:g.247236141_247236142insATATATATAC, NC_000001.10:g.247236141_247236142insATATATATATAC, NC_000001.10:g.247236141_247236142insATATATATATATACACACACAC

Select item 14915532584.

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 14915524945.

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 14915415776.

rs1491541577 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:247072839 (GRCh38)
1:247236141 (GRCh37)
Canonical SPDI:: NC_000001.11:247072838:TG:
Gene:: ZNF670 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.13541/12960 (GnomAD)
-=0.16667/100 (NorthernSweden)
HGVS:: NC_000001.11:g.247072839_247072840del, NC_000001.10:g.247236141_247236142del

Select item 14915117397.

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 14915096488.

rs1491509648 has merged into rs71573078 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT [Show Flanks]
Chromosome:: 1:247072800 (GRCh38)
1:247236102 (GRCh37)
Canonical SPDI:: NC_000001.11:247072797:GTGTGTGT:GT,NC_000001.11:247072797:GTGTGTGT:GTGT,NC_000001.11:247072797:GTGTGTGT:GTGTGT,NC_000001.11:247072797:GTGTGTGT:GTGTGTGTGT,NC_000001.11:247072797:GTGTGTGT:GTGTGTGTGTGT
Gene:: ZNF670 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GT=0./0 (ALFA)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000001.11:g.247072798GT[1], NC_000001.11:g.247072798GT[2], NC_000001.11:g.247072798GT[3], NC_000001.11:g.247072798GT[5], NC_000001.11:g.247072798GT[6], NC_000001.10:g.247236100GT[1], NC_000001.10:g.247236100GT[2], NC_000001.10:g.247236100GT[3], NC_000001.10:g.247236100GT[5], NC_000001.10:g.247236100GT[6]

Select item 14914981869.

rs1491498186 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 1:247072840 (GRCh38)
1:247236142 (GRCh37)
Canonical SPDI:: NC_000001.11:247072839:GC:
Gene:: ZNF670 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.0069/416 (GnomAD)
-=0.00738/4 (NorthernSweden)
-=0.01359/227 (TOMMO)
-=0.03634/66 (Korea1K)
HGVS:: NC_000001.11:g.247072840_247072841del, NC_000001.10:g.247236142_247236143del

Select item 149147487210.

rs1491474872 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:247068319 (GRCh38)
1:247231621 (GRCh37)
Canonical SPDI:: NC_000001.11:247068318:CA:
Gene:: ZNF670 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00101/12 (ALFA)
-=0.01765/113 (1000Genomes)
-=0.02681/756 (GnomAD)
HGVS:: NC_000001.11:g.247068319_247068320del, NC_000001.10:g.247231621_247231622del

Select item 149147450111.

rs1491474501 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:247011650 (GRCh38)
1:247174953 (GRCh37)
Canonical SPDI:: NC_000001.11:247011650::T
Gene:: ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.247011650_247011651insT, NC_000001.10:g.247174952_247174953insT

Select item 149144005512.

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 149142478513.

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 149139035914.

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 149137581115.

rs1491375811 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCAT [Show Flanks]
Chromosome:: 1:247072805 (GRCh38)
1:247236108 (GRCh37)
Canonical SPDI:: NC_000001.11:247072805:AT:ATGCAT
Gene:: ZNF670 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATGCAT=0./0 (ALFA)
ATGC=0.000004/1 (TOPMED)
ATGC=0.000036/0 (TOMMO)
HGVS:: NC_000001.11:g.247072807_247072808insGCAT, NC_000001.10:g.247236109_247236110insGCAT

Select item 149134199416.

rs1491341994 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 1:247039061 (GRCh38)
1:247202364 (GRCh37)
Canonical SPDI:: NC_000001.11:247039061:TTT:TTTCTTT
Gene:: ZNF670 (Varview), ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTCTTT=0./0 (ALFA)
TTTC=0.00007/2 (GnomAD)
HGVS:: NC_000001.11:g.247039064_247039065insCTTT, NC_000001.10:g.247202366_247202367insCTTT

Select item 149133758217.

rs1491337582 has merged into rs1296262215 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA [Show Flanks]
Chromosome:: 1:247011657 (GRCh38)
1:247174959 (GRCh37)
Canonical SPDI:: NC_000001.11:247011649:AGAGAGAGAGA:AGAGAGA,NC_000001.11:247011649:AGAGAGAGAGA:AGAGAGAGA,NC_000001.11:247011649:AGAGAGAGAGA:AGAGAGAGAGAGA
Gene:: ZNF670-ZNF695 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGA=0./0 (ALFA)
HGVS:: NC_000001.11:g.247011651GA[3], NC_000001.11:g.247011651GA[4], NC_000001.11:g.247011651GA[6], NC_000001.10:g.247174953GA[3], NC_000001.10:g.247174953GA[4], NC_000001.10:g.247174953GA[6]

Select item 149131177418.

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 149129510519.

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 149128155120.

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

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