SNP Links for Gene (Select 80063) - SNP

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Select item 14915301381.

rs1491530138 has merged into rs144175914 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT [Show Flanks]
Chromosome:: 16:10476494 (GRCh38)
16:10570351 (GRCh37)
Canonical SPDI:: NC_000016.10:10476484:TGTGTGTGTGTGTGT:TGTGTGTGT,NC_000016.10:10476484:TGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000016.10:10476484:TGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000016.10:10476484:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000016.10:10476484:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT
Gene:: ATF7IP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGT=0./0 (ALFA)
-=0.000023/6 (TOPMED)
-=0.00058/1 (Korea1K)
TG=0.014028/14 (GoNL)
HGVS:: NC_000016.10:g.10476486GT[4], NC_000016.10:g.10476486GT[5], NC_000016.10:g.10476486GT[6], NC_000016.10:g.10476486GT[8], NC_000016.10:g.10476486GT[9], NC_000016.9:g.10570343GT[4], NC_000016.9:g.10570343GT[5], NC_000016.9:g.10570343GT[6], NC_000016.9:g.10570343GT[8], NC_000016.9:g.10570343GT[9]

Select item 14914468402.

rs1491446840 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,G [Show Flanks]
Chromosome:: 16:10407918 (GRCh38)
16:10501776 (GRCh37)
Canonical SPDI:: NC_000016.10:10407918::C,NC_000016.10:10407918::G
Gene:: ATF7IP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
G=0.000035/1 (TOMMO)
C=0.000036/3 (GnomAD)
HGVS:: NC_000016.10:g.10407918_10407919insC, NC_000016.10:g.10407918_10407919insG, NC_000016.9:g.10501775_10501776insC, NC_000016.9:g.10501775_10501776insG

Select item 14914435233.

rs1491443523 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:10385580 (GRCh38)
16:10479437 (GRCh37)
Canonical SPDI:: NC_000016.10:10385579:CA:
Gene:: ATF7IP2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000016.10:g.10385580_10385581del, NC_000016.9:g.10479437_10479438del

Select item 14913843634.

rs1491384363 has merged into rs35727703 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 16:10407928 (GRCh38)
16:10501785 (GRCh37)
Canonical SPDI:: NC_000016.10:10407917:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:10407917:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:10407917:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:10407917:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:10407917:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:10407917:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: ATF7IP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.157191/94 (NorthernSweden)
-=0.207802/55003 (TOPMED)
-=0.228457/228 (GoNL)
-=0.25/10 (GENOME_DK)
-=0.28754/1440 (1000Genomes)
HGVS:: NC_000016.10:g.10407928_10407931del, NC_000016.10:g.10407929_10407931del, NC_000016.10:g.10407930_10407931del, NC_000016.10:g.10407931del, NC_000016.10:g.10407931dup, NC_000016.10:g.10407930_10407931dup, NC_000016.9:g.10501785_10501788del, NC_000016.9:g.10501786_10501788del, NC_000016.9:g.10501787_10501788del, NC_000016.9:g.10501788del, NC_000016.9:g.10501788dup, NC_000016.9:g.10501787_10501788dup

Select item 14913744525.

rs1491374452 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:10428185 (GRCh38)
16:10522043 (GRCh37)
Canonical SPDI:: NC_000016.10:10428185:T:TT
Gene:: ATF7IP2 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.10428186dup, NC_000016.9:g.10522043dup, XM_047434683.1:c.-841dup, XM_047434684.1:c.-841dup

Select item 14912276536.

rs1491227653 has merged into rs58879332 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:10393326 (GRCh38)
16:10487183 (GRCh37)
Canonical SPDI:: NC_000016.10:10393315:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:10393315:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:10393315:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:10393315:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:10393315:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:10393315:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:10393315:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:10393315:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:10393315:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:10393315:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:10393315:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:10393315:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:10393315:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:10393315:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:10393315:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:10393315:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:10393315:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:10393315:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:10393315:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:10393315:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:10393315:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ATF7IP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000016.10:g.10393326_10393342del, NC_000016.10:g.10393328_10393342del, NC_000016.10:g.10393329_10393342del, NC_000016.10:g.10393330_10393342del, NC_000016.10:g.10393331_10393342del, NC_000016.10:g.10393333_10393342del, NC_000016.10:g.10393334_10393342del, NC_000016.10:g.10393335_10393342del, NC_000016.10:g.10393336_10393342del, NC_000016.10:g.10393337_10393342del, NC_000016.10:g.10393338_10393342del, NC_000016.10:g.10393340_10393342del, NC_000016.10:g.10393341_10393342del, NC_000016.10:g.10393342del, NC_000016.10:g.10393342dup, NC_000016.10:g.10393341_10393342dup, NC_000016.10:g.10393340_10393342dup, NC_000016.10:g.10393339_10393342dup, NC_000016.10:g.10393338_10393342dup, NC_000016.10:g.10393336_10393342dup, NC_000016.10:g.10393342_10393343insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.10487183_10487199del, NC_000016.9:g.10487185_10487199del, NC_000016.9:g.10487186_10487199del, NC_000016.9:g.10487187_10487199del, NC_000016.9:g.10487188_10487199del, NC_000016.9:g.10487190_10487199del, NC_000016.9:g.10487191_10487199del, NC_000016.9:g.10487192_10487199del, NC_000016.9:g.10487193_10487199del, NC_000016.9:g.10487194_10487199del, NC_000016.9:g.10487195_10487199del, NC_000016.9:g.10487197_10487199del, NC_000016.9:g.10487198_10487199del, NC_000016.9:g.10487199del, NC_000016.9:g.10487199dup, NC_000016.9:g.10487198_10487199dup, NC_000016.9:g.10487197_10487199dup, NC_000016.9:g.10487196_10487199dup, NC_000016.9:g.10487195_10487199dup, NC_000016.9:g.10487193_10487199dup, NC_000016.9:g.10487199_10487200insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912108347.

rs1491210834 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 16:10428186 (GRCh38)
16:10522043 (GRCh37)
Canonical SPDI:: NC_000016.10:10428184:ATA:A
Gene:: ATF7IP2 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.10428186_10428187del, NC_000016.9:g.10522043_10522044del, XM_047434683.1:c.-841_-840del, XM_047434684.1:c.-841_-840del

Select item 14911802718.

rs1491180271 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CGGC
Chromosome:: no mapping
Canonical SPDI:

Select item 14911168639.

rs1491116863 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 16:10475121 (GRCh38)
16:10568978 (GRCh37)
Canonical SPDI:: NC_000016.10:10475120:AG:
Gene:: ATF7IP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0051/23 (ALFA)
HGVS:: NC_000016.10:g.10475121_10475122del, NC_000016.9:g.10568978_10568979del

Select item 149111200710.

rs1491112007 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:10393315 (GRCh38)
16:10487172 (GRCh37)
Canonical SPDI:: NC_000016.10:10393314:CA:
Gene:: ATF7IP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000016.10:g.10393315_10393316del, NC_000016.9:g.10487172_10487173del

Select item 149106057011.

rs1491060570 has merged into rs34917688 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:10402919 (GRCh38)
16:10496776 (GRCh37)
Canonical SPDI:: NC_000016.10:10402907:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:10402907:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:10402907:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:10402907:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:10402907:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:10402907:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:10402907:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: ATF7IP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.1715/661 (ALSPAC)
-=0.4643/2325 (1000Genomes)
HGVS:: NC_000016.10:g.10402919_10402922del, NC_000016.10:g.10402920_10402922del, NC_000016.10:g.10402921_10402922del, NC_000016.10:g.10402922del, NC_000016.10:g.10402922dup, NC_000016.10:g.10402921_10402922dup, NC_000016.10:g.10402915_10402922dup, NC_000016.9:g.10496776_10496779del, NC_000016.9:g.10496777_10496779del, NC_000016.9:g.10496778_10496779del, NC_000016.9:g.10496779del, NC_000016.9:g.10496779dup, NC_000016.9:g.10496778_10496779dup, NC_000016.9:g.10496772_10496779dup

Select item 149098773212.

rs1490987732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:10439708 (GRCh38)
16:10533565 (GRCh37)
Canonical SPDI:: NC_000016.10:10439707:G:A
Gene:: ATF7IP2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.10439708G>A, NC_000016.9:g.10533565G>A

Select item 149098718113.

rs1490987181 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:10453194 (GRCh38)
16:10547051 (GRCh37)
Canonical SPDI:: NC_000016.10:10453193:T:G
Gene:: ATF7IP2 (Varview), LOC107984877 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.10453194T>G, NC_000016.9:g.10547051T>G, XR_001752079.3:n.1909A>C, XR_007064983.1:n.1909A>C, XR_007064981.1:n.1909A>C, XR_007064982.1:n.1909A>C

Select item 149097907214.

rs1490979072 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:10479932 (GRCh38)
16:10573789 (GRCh37)
Canonical SPDI:: NC_000016.10:10479931:T:A
Gene:: ATF7IP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.10479932T>A, NC_000016.9:g.10573789T>A

Select item 149094941015.

rs1490949410 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:10439194 (GRCh38)
16:10533051 (GRCh37)
Canonical SPDI:: NC_000016.10:10439193:A:T
Gene:: ATF7IP2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.10439194A>T, NC_000016.9:g.10533051A>T

Select item 149094348916.

rs1490943489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:10397736 (GRCh38)
16:10491593 (GRCh37)
Canonical SPDI:: NC_000016.10:10397735:G:A
Gene:: ATF7IP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.10397736G>A, NC_000016.9:g.10491593G>A

Select item 149092749317.

rs1490927493 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:10409330 (GRCh38)
16:10503187 (GRCh37)
Canonical SPDI:: NC_000016.10:10409329:G:A
Gene:: ATF7IP2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.10409330G>A, NC_000016.9:g.10503187G>A

Select item 149090093918.

rs1490900939 [Homo sapiens]

Variant type:: DEL
Alleles:: ATTA>- [Show Flanks]
Chromosome:: 16:10425012 (GRCh38)
16:10518869 (GRCh37)
Canonical SPDI:: NC_000016.10:10425011:ATTA:
Gene:: ATF7IP2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.10425012_10425015del, NC_000016.9:g.10518869_10518872del, XM_047434683.1:c.-4015_-4012del, XM_047434684.1:c.-4015_-4012del

Select item 149089462619.

rs1490894626 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:10385130 (GRCh38)
16:10478987 (GRCh37)
Canonical SPDI:: NC_000016.10:10385129:A:G
Gene:: ATF7IP2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.10385130A>G, NC_000016.9:g.10478987A>G

Select item 149084873620.

rs1490848736 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:10385028 (GRCh38)
16:10478885 (GRCh37)
Canonical SPDI:: NC_000016.10:10385027:G:A
Gene:: ATF7IP2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00003/8 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000016.10:g.10385028G>A, NC_000016.9:g.10478885G>A

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