SNP Links for Gene (Select 729156) - SNP

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Items: 1 to 20 of 8476

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Select item 14915749691.

rs1491574969 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 7:66839114 (GRCh38)
7:66304101 (GRCh37)
Canonical SPDI:: NC_000007.14:66839113:GT:
Gene:: GTF2IRD1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000127/15 (GnomAD)
HGVS:: NC_000007.14:g.66839114_66839115del, NC_000007.13:g.66304101_66304102del

Select item 14915202582.

rs1491520258 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 7:66839026 (GRCh38)
7:66304013 (GRCh37)
Canonical SPDI:: NC_000007.14:66839025:GT:
Gene:: GTF2IRD1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000036/4 (GnomAD)
HGVS:: NC_000007.14:g.66839026_66839027del, NC_000007.13:g.66304013_66304014del

Select item 14914739033.

rs1491473903 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTATATAT [Show Flanks]
Chromosome:: 7:66839025 (GRCh38)
7:66304013 (GRCh37)
Canonical SPDI:: NC_000007.14:66839025:GTATATAT:GTATATATGTATATAT
Gene:: GTF2IRD1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTATATATGTATATAT=0.000337/4 (ALFA)
GTATATAT=0.000027/3 (GnomAD)
HGVS:: NC_000007.14:g.66839026_66839033dup, NC_000007.13:g.66304013_66304020dup

Select item 14914609074.

rs1491460907 has merged into rs558313558 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 7:66839034 (GRCh38)
7:66304021 (GRCh37)
Canonical SPDI:: NC_000007.14:66839026:TATATATAT:TATATAT,NC_000007.14:66839026:TATATATAT:TATATATATAT
Gene:: GTF2IRD1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATAT=0./0 (ALFA)
-=0.001455/164 (GnomAD)
-=0.003794/19 (1000Genomes)
HGVS:: NC_000007.14:g.66839028AT[3], NC_000007.14:g.66839028AT[5], NC_000007.13:g.66304015AT[3], NC_000007.13:g.66304015AT[5]

Select item 14914533635.

rs1491453363 has merged into rs35817431 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 7:66820190 (GRCh38)
7:66285177 (GRCh37)
Canonical SPDI:: NC_000007.14:66820184:TTTTTTT:TTTTT,NC_000007.14:66820184:TTTTTTT:TTTTTT,NC_000007.14:66820184:TTTTTTT:TTTTTTTT
Gene:: GTF2IRD1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000166/44 (TOPMED)
T=0.000547/1 (Korea1K)
HGVS:: NC_000007.14:g.66820190_66820191del, NC_000007.14:g.66820191del, NC_000007.14:g.66820191dup, NC_000007.13:g.66285177_66285178del, NC_000007.13:g.66285178del, NC_000007.13:g.66285178dup

Select item 14913607856.

rs1491360785 has merged into rs1456486156 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT,GTGTGTGT,GTGTGTGTGTGT [Show Flanks]
Chromosome:: 7:66839064 (GRCh38)
7:66304051 (GRCh37)
Canonical SPDI:: NC_000007.14:66839062:TGT:T,NC_000007.14:66839062:TGT:TGTGT,NC_000007.14:66839062:TGT:TGTGTGTGT,NC_000007.14:66839062:TGT:TGTGTGTGTGTGT
Gene:: GTF2IRD1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
HGVS:: NC_000007.14:g.66839064_66839065del, NC_000007.14:g.66839064_66839065dup, NC_000007.14:g.66839064GT[4], NC_000007.14:g.66839064GT[6], NC_000007.13:g.66304051_66304052del, NC_000007.13:g.66304051_66304052dup, NC_000007.13:g.66304051GT[4], NC_000007.13:g.66304051GT[6]

Select item 14913545207.

rs1491354520 has merged into rs1217212087 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 7:66839120 (GRCh38)
7:66304107 (GRCh37)
Canonical SPDI:: NC_000007.14:66839114:TATATATAT:TATAT,NC_000007.14:66839114:TATATATAT:TATATAT,NC_000007.14:66839114:TATATATAT:TATATATATAT
Gene:: GTF2IRD1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000071/1 (TOMMO)
-=0.000549/1 (Korea1K)
HGVS:: NC_000007.14:g.66839116AT[2], NC_000007.14:g.66839116AT[3], NC_000007.14:g.66839116AT[5], NC_000007.13:g.66304103AT[2], NC_000007.13:g.66304103AT[3], NC_000007.13:g.66304103AT[5]

Select item 14912880088.

rs1491288008 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 7:66839025 (GRCh38)
7:66304012 (GRCh37)
Canonical SPDI:: NC_000007.14:66839024:CG:
Gene:: GTF2IRD1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.003188/400 (GnomAD)
HGVS:: NC_000007.14:g.66839025_66839026del, NC_000007.13:g.66304012_66304013del

Select item 14911503259.

rs1491150325 has merged into rs1341622832 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA [Show Flanks]
Chromosome:: 7:66839109 (GRCh38)
7:66304096 (GRCh37)
Canonical SPDI:: NC_000007.14:66839102:TATATATATA:TATATA,NC_000007.14:66839102:TATATATATA:TATATATA,NC_000007.14:66839102:TATATATATA:TATATATATATA
Gene:: GTF2IRD1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATA=0./0 (ALFA)
-=0./0 (ALSPAC)
TA=0.00004/1 (TOMMO)
-=0.00081/3 (TWINSUK)
HGVS:: NC_000007.14:g.66839103TA[3], NC_000007.14:g.66839103TA[4], NC_000007.14:g.66839103TA[6], NC_000007.13:g.66304090TA[3], NC_000007.13:g.66304090TA[4], NC_000007.13:g.66304090TA[6]

Select item 149112615910.

rs1491126159 has merged into rs35817431 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 7:66820190 (GRCh38)
7:66285177 (GRCh37)
Canonical SPDI:: NC_000007.14:66820184:TTTTTTT:TTTTT,NC_000007.14:66820184:TTTTTTT:TTTTTT,NC_000007.14:66820184:TTTTTTT:TTTTTTTT
Gene:: GTF2IRD1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000166/44 (TOPMED)
T=0.000547/1 (Korea1K)
HGVS:: NC_000007.14:g.66820190_66820191del, NC_000007.14:g.66820191del, NC_000007.14:g.66820191dup, NC_000007.13:g.66285177_66285178del, NC_000007.13:g.66285178del, NC_000007.13:g.66285178dup

Select item 149107595711.

rs1491075957 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:66839279 (GRCh38)
7:66304266 (GRCh37)
Canonical SPDI:: NC_000007.14:66839273:TATATAT:TATAT
Gene:: GTF2IRD1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATAT=0./0 (ALFA)
HGVS:: NC_000007.14:g.66839275AT[2], NC_000007.13:g.66304262AT[2]

Select item 149102057912.

rs1491020579 has merged into rs548523406 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 7:66841623 (GRCh38)
7:66306610 (GRCh37)
Canonical SPDI:: NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: GTF2IRD1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.25/2 (KOREAN)
HGVS:: NC_000007.14:g.66841623_66841626del, NC_000007.14:g.66841624_66841626del, NC_000007.14:g.66841625_66841626del, NC_000007.14:g.66841626del, NC_000007.14:g.66841626dup, NC_000007.14:g.66841625_66841626dup, NC_000007.14:g.66841624_66841626dup, NC_000007.14:g.66841623_66841626dup, NC_000007.13:g.66306610_66306613del, NC_000007.13:g.66306611_66306613del, NC_000007.13:g.66306612_66306613del, NC_000007.13:g.66306613del, NC_000007.13:g.66306613dup, NC_000007.13:g.66306612_66306613dup, NC_000007.13:g.66306611_66306613dup, NC_000007.13:g.66306610_66306613dup

Select item 149101777013.

rs1491017770 has merged into rs575325735 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:66813850 (GRCh38)
7:66278837 (GRCh37)
Canonical SPDI:: NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAA,NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: GTF2IRD1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.3/12 (GENOME_DK)
HGVS:: NC_000007.14:g.66813850_66813858del, NC_000007.14:g.66813851_66813858del, NC_000007.14:g.66813852_66813858del, NC_000007.14:g.66813853_66813858del, NC_000007.14:g.66813855_66813858del, NC_000007.14:g.66813856_66813858del, NC_000007.14:g.66813857_66813858del, NC_000007.14:g.66813858del, NC_000007.14:g.66813858dup, NC_000007.14:g.66813857_66813858dup, NC_000007.14:g.66813856_66813858dup, NC_000007.13:g.66278837_66278845del, NC_000007.13:g.66278838_66278845del, NC_000007.13:g.66278839_66278845del, NC_000007.13:g.66278840_66278845del, NC_000007.13:g.66278842_66278845del, NC_000007.13:g.66278843_66278845del, NC_000007.13:g.66278844_66278845del, NC_000007.13:g.66278845del, NC_000007.13:g.66278845dup, NC_000007.13:g.66278844_66278845dup, NC_000007.13:g.66278843_66278845dup

Select item 149098272314.

rs1490982723 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:66827711 (GRCh38)
7:66292698 (GRCh37)
Canonical SPDI:: NC_000007.14:66827710:T:C
Gene:: GTF2IRD1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00043/7 (ALFA)
C=0.00031/2 (1000Genomes)
C=0.00057/9 (TOMMO)
C=0.05133/150 (KOREAN)
T=0.5/5 (SGDP_PRJ)
HGVS:: NC_000007.14:g.66827711T>C, NC_000007.13:g.66292698T>C

Select item 149084385515.

rs1490843855 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATGT>- [Show Flanks]
Chromosome:: 7:66839166 (GRCh38)
7:66304153 (GRCh37)
Canonical SPDI:: NC_000007.14:66839164:TATGT:T
Gene:: GTF2IRD1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000155/41 (TOPMED)
-=0.000169/23 (GnomAD)
HGVS:: NC_000007.14:g.66839166_66839169del, NC_000007.13:g.66304153_66304156del

Select item 149082271916.

rs1490822719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:66820578 (GRCh38)
7:66285565 (GRCh37)
Canonical SPDI:: NC_000007.14:66820577:C:T
Gene:: GTF2IRD1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000184/3 (ALFA)
T=0.000036/1 (TOMMO)
T=0.000051/7 (GnomAD)
HGVS:: NC_000007.14:g.66820578C>T, NC_000007.13:g.66285565C>T

Select item 149079155817.

rs1490791558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:66822555 (GRCh38)
7:66287542 (GRCh37)
Canonical SPDI:: NC_000007.14:66822554:G:A
Gene:: GTF2IRD1P1 (Varview)
Functional Consequence:: intron_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_000007.14:g.66822555G>A, NC_000007.13:g.66287542G>A

Select item 149076609118.

rs1490766091 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:66820069 (GRCh38)
7:66285056 (GRCh37)
Canonical SPDI:: NC_000007.14:66820068:A:T
Gene:: GTF2IRD1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.66820069A>T, NC_000007.13:g.66285056A>T

Select item 149073533019.

rs1490735330 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:66820694 (GRCh38)
7:66285681 (GRCh37)
Canonical SPDI:: NC_000007.14:66820693:G:A
Gene:: GTF2IRD1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000022/3 (GnomAD)
A=0.000212/4 (TOMMO)
A=0.000312/2 (1000Genomes)
A=0.001369/4 (KOREAN)
HGVS:: NC_000007.14:g.66820694G>A, NC_000007.13:g.66285681G>A

Select item 149070233320.

rs1490702333 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:66834662 (GRCh38)
7:66299649 (GRCh37)
Canonical SPDI:: NC_000007.14:66834661:T:C
Gene:: GTF2IRD1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.66834662T>C, NC_000007.13:g.66299649T>C

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