SNP Links for Gene (Select 8473) - SNP

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Select item 14913691331.

rs1491369133 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: X:71543734 (GRCh38)
X:70763585 (GRCh37)
Canonical SPDI:: NC_000023.11:71543734:T:TT
Gene:: OGT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000023.11:g.71543735dup, NC_000023.10:g.70763585dup, NG_015875.1:g.15674dup

Select item 14913354032.

rs1491335403 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:71549295 (GRCh38)
X:70769145 (GRCh37)
Canonical SPDI:: NC_000023.11:71549294:CA:
Gene:: OGT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.71549295_71549296del, NC_000023.10:g.70769145_70769146del, NG_015875.1:g.21234_21235del

Select item 14911355763.

rs1491135576 has merged into rs35779562 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:71549306 (GRCh38)
X:70769156 (GRCh37)
Canonical SPDI:: NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: OGT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.71549306_71549323del, NC_000023.11:g.71549307_71549323del, NC_000023.11:g.71549308_71549323del, NC_000023.11:g.71549311_71549323del, NC_000023.11:g.71549312_71549323del, NC_000023.11:g.71549314_71549323del, NC_000023.11:g.71549315_71549323del, NC_000023.11:g.71549316_71549323del, NC_000023.11:g.71549317_71549323del, NC_000023.11:g.71549318_71549323del, NC_000023.11:g.71549319_71549323del, NC_000023.11:g.71549320_71549323del, NC_000023.11:g.71549321_71549323del, NC_000023.11:g.71549322_71549323del, NC_000023.11:g.71549323del, NC_000023.11:g.71549323dup, NC_000023.11:g.71549322_71549323dup, NC_000023.11:g.71549321_71549323dup, NC_000023.11:g.71549320_71549323dup, NC_000023.11:g.71549319_71549323dup, NC_000023.10:g.70769156_70769173del, NC_000023.10:g.70769157_70769173del, NC_000023.10:g.70769158_70769173del, NC_000023.10:g.70769161_70769173del, NC_000023.10:g.70769162_70769173del, NC_000023.10:g.70769164_70769173del, NC_000023.10:g.70769165_70769173del, NC_000023.10:g.70769166_70769173del, NC_000023.10:g.70769167_70769173del, NC_000023.10:g.70769168_70769173del, NC_000023.10:g.70769169_70769173del, NC_000023.10:g.70769170_70769173del, NC_000023.10:g.70769171_70769173del, NC_000023.10:g.70769172_70769173del, NC_000023.10:g.70769173del, NC_000023.10:g.70769173dup, NC_000023.10:g.70769172_70769173dup, NC_000023.10:g.70769171_70769173dup, NC_000023.10:g.70769170_70769173dup, NC_000023.10:g.70769169_70769173dup, NG_015875.1:g.21245_21262del, NG_015875.1:g.21246_21262del, NG_015875.1:g.21247_21262del, NG_015875.1:g.21250_21262del, NG_015875.1:g.21251_21262del, NG_015875.1:g.21253_21262del, NG_015875.1:g.21254_21262del, NG_015875.1:g.21255_21262del, NG_015875.1:g.21256_21262del, NG_015875.1:g.21257_21262del, NG_015875.1:g.21258_21262del, NG_015875.1:g.21259_21262del, NG_015875.1:g.21260_21262del, NG_015875.1:g.21261_21262del, NG_015875.1:g.21262del, NG_015875.1:g.21262dup, NG_015875.1:g.21261_21262dup, NG_015875.1:g.21260_21262dup, NG_015875.1:g.21259_21262dup, NG_015875.1:g.21258_21262dup

Select item 14911324064.

rs1491132406 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTC [Show Flanks]
Chromosome:: X:71543249 (GRCh38)
X:70763100 (GRCh37)
Canonical SPDI:: NC_000023.11:71543249:TTC:TTCTTC
Gene:: OGT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTTC=0.000071/1 (ALFA)
TTC=0.000106/11 (GnomAD)
TTC=0.000113/30 (TOPMED)
HGVS:: NC_000023.11:g.71543250_71543252dup, NC_000023.10:g.70763100_70763102dup, NG_015875.1:g.15189_15191dup

Select item 14910858735.

rs1491085873 has merged into rs35779562 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:71549306 (GRCh38)
X:70769156 (GRCh37)
Canonical SPDI:: NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: OGT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.71549306_71549323del, NC_000023.11:g.71549307_71549323del, NC_000023.11:g.71549308_71549323del, NC_000023.11:g.71549311_71549323del, NC_000023.11:g.71549312_71549323del, NC_000023.11:g.71549314_71549323del, NC_000023.11:g.71549315_71549323del, NC_000023.11:g.71549316_71549323del, NC_000023.11:g.71549317_71549323del, NC_000023.11:g.71549318_71549323del, NC_000023.11:g.71549319_71549323del, NC_000023.11:g.71549320_71549323del, NC_000023.11:g.71549321_71549323del, NC_000023.11:g.71549322_71549323del, NC_000023.11:g.71549323del, NC_000023.11:g.71549323dup, NC_000023.11:g.71549322_71549323dup, NC_000023.11:g.71549321_71549323dup, NC_000023.11:g.71549320_71549323dup, NC_000023.11:g.71549319_71549323dup, NC_000023.10:g.70769156_70769173del, NC_000023.10:g.70769157_70769173del, NC_000023.10:g.70769158_70769173del, NC_000023.10:g.70769161_70769173del, NC_000023.10:g.70769162_70769173del, NC_000023.10:g.70769164_70769173del, NC_000023.10:g.70769165_70769173del, NC_000023.10:g.70769166_70769173del, NC_000023.10:g.70769167_70769173del, NC_000023.10:g.70769168_70769173del, NC_000023.10:g.70769169_70769173del, NC_000023.10:g.70769170_70769173del, NC_000023.10:g.70769171_70769173del, NC_000023.10:g.70769172_70769173del, NC_000023.10:g.70769173del, NC_000023.10:g.70769173dup, NC_000023.10:g.70769172_70769173dup, NC_000023.10:g.70769171_70769173dup, NC_000023.10:g.70769170_70769173dup, NC_000023.10:g.70769169_70769173dup, NG_015875.1:g.21245_21262del, NG_015875.1:g.21246_21262del, NG_015875.1:g.21247_21262del, NG_015875.1:g.21250_21262del, NG_015875.1:g.21251_21262del, NG_015875.1:g.21253_21262del, NG_015875.1:g.21254_21262del, NG_015875.1:g.21255_21262del, NG_015875.1:g.21256_21262del, NG_015875.1:g.21257_21262del, NG_015875.1:g.21258_21262del, NG_015875.1:g.21259_21262del, NG_015875.1:g.21260_21262del, NG_015875.1:g.21261_21262del, NG_015875.1:g.21262del, NG_015875.1:g.21262dup, NG_015875.1:g.21261_21262dup, NG_015875.1:g.21260_21262dup, NG_015875.1:g.21259_21262dup, NG_015875.1:g.21258_21262dup

Select item 14909658346.

rs1490965834 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: X:71558983 (GRCh38)
X:70778833 (GRCh37)
Canonical SPDI:: NC_000023.11:71558982:G:A,NC_000023.11:71558982:G:C,NC_000023.11:71558982:G:T
Gene:: OGT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000034/9 (TOPMED)
C=0.000035/3 (GnomAD)
HGVS:: NC_000023.11:g.71558983G>A, NC_000023.11:g.71558983G>C, NC_000023.11:g.71558983G>T, NC_000023.10:g.70778833G>A, NC_000023.10:g.70778833G>C, NC_000023.10:g.70778833G>T, NG_015875.1:g.30922G>A, NG_015875.1:g.30922G>C, NG_015875.1:g.30922G>T

Select item 14907752717.

rs1490775271 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:71570405 (GRCh38)
X:70790255 (GRCh37)
Canonical SPDI:: NC_000023.11:71570404:G:C
Gene:: OGT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.71570405G>C, NC_000023.10:g.70790255G>C, NG_015875.1:g.42344G>C

Select item 14907422918.

rs1490742291 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:71548851 (GRCh38)
X:70768701 (GRCh37)
Canonical SPDI:: NC_000023.11:71548850:C:A
Gene:: OGT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.71548851C>A, NC_000023.10:g.70768701C>A, NG_015875.1:g.20790C>A

Select item 14907273429.

rs1490727342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:71547253 (GRCh38)
X:70767103 (GRCh37)
Canonical SPDI:: NC_000023.11:71547252:G:A
Gene:: OGT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.71547253G>A, NC_000023.10:g.70767103G>A, NG_015875.1:g.19192G>A, NM_003605.3:c.*2606G>A, NM_003605.2:c.-500G>A

Select item 149061389810.

rs1490613898 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:71571074 (GRCh38)
X:70790924 (GRCh37)
Canonical SPDI:: NC_000023.11:71571073:T:C
Gene:: OGT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.71571074T>C, NC_000023.10:g.70790924T>C, NG_015875.1:g.43013T>C

Select item 149058104911.

rs1490581049 has merged into rs35779562 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:71549306 (GRCh38)
X:70769156 (GRCh37)
Canonical SPDI:: NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71549295:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: OGT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.71549306_71549323del, NC_000023.11:g.71549307_71549323del, NC_000023.11:g.71549308_71549323del, NC_000023.11:g.71549311_71549323del, NC_000023.11:g.71549312_71549323del, NC_000023.11:g.71549314_71549323del, NC_000023.11:g.71549315_71549323del, NC_000023.11:g.71549316_71549323del, NC_000023.11:g.71549317_71549323del, NC_000023.11:g.71549318_71549323del, NC_000023.11:g.71549319_71549323del, NC_000023.11:g.71549320_71549323del, NC_000023.11:g.71549321_71549323del, NC_000023.11:g.71549322_71549323del, NC_000023.11:g.71549323del, NC_000023.11:g.71549323dup, NC_000023.11:g.71549322_71549323dup, NC_000023.11:g.71549321_71549323dup, NC_000023.11:g.71549320_71549323dup, NC_000023.11:g.71549319_71549323dup, NC_000023.10:g.70769156_70769173del, NC_000023.10:g.70769157_70769173del, NC_000023.10:g.70769158_70769173del, NC_000023.10:g.70769161_70769173del, NC_000023.10:g.70769162_70769173del, NC_000023.10:g.70769164_70769173del, NC_000023.10:g.70769165_70769173del, NC_000023.10:g.70769166_70769173del, NC_000023.10:g.70769167_70769173del, NC_000023.10:g.70769168_70769173del, NC_000023.10:g.70769169_70769173del, NC_000023.10:g.70769170_70769173del, NC_000023.10:g.70769171_70769173del, NC_000023.10:g.70769172_70769173del, NC_000023.10:g.70769173del, NC_000023.10:g.70769173dup, NC_000023.10:g.70769172_70769173dup, NC_000023.10:g.70769171_70769173dup, NC_000023.10:g.70769170_70769173dup, NC_000023.10:g.70769169_70769173dup, NG_015875.1:g.21245_21262del, NG_015875.1:g.21246_21262del, NG_015875.1:g.21247_21262del, NG_015875.1:g.21250_21262del, NG_015875.1:g.21251_21262del, NG_015875.1:g.21253_21262del, NG_015875.1:g.21254_21262del, NG_015875.1:g.21255_21262del, NG_015875.1:g.21256_21262del, NG_015875.1:g.21257_21262del, NG_015875.1:g.21258_21262del, NG_015875.1:g.21259_21262del, NG_015875.1:g.21260_21262del, NG_015875.1:g.21261_21262del, NG_015875.1:g.21262del, NG_015875.1:g.21262dup, NG_015875.1:g.21261_21262dup, NG_015875.1:g.21260_21262dup, NG_015875.1:g.21259_21262dup, NG_015875.1:g.21258_21262dup

Select item 149023960312.

rs1490239603 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:71572223 (GRCh38)
X:70792073 (GRCh37)
Canonical SPDI:: NC_000023.11:71572222:G:A
Gene:: OGT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000039/4 (GnomAD)
HGVS:: NC_000023.11:g.71572223G>A, NC_000023.10:g.70792073G>A, NG_015875.1:g.44162G>A

Select item 149021862713.

rs1490218627 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:71561052 (GRCh38)
X:70780902 (GRCh37)
Canonical SPDI:: NC_000023.11:71561051:C:T
Gene:: OGT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000023.11:g.71561052C>T, NC_000023.10:g.70780902C>T, NG_015875.1:g.32991C>T

Select item 149014687814.

rs1490146878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:71559887 (GRCh38)
X:70779737 (GRCh37)
Canonical SPDI:: NC_000023.11:71559886:G:A
Gene:: OGT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.71559887G>A, NC_000023.10:g.70779737G>A, NG_015875.1:g.31826G>A

Select item 149012988515.

rs1490129885 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:71537486 (GRCh38)
X:70757336 (GRCh37)
Canonical SPDI:: NC_000023.11:71537485:G:A
Gene:: OGT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00275/8 (KOREAN)
HGVS:: NC_000023.11:g.71537486G>A, NC_000023.10:g.70757336G>A, NG_015875.1:g.9425G>A

Select item 149011426616.

rs1490114266 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:71536100 (GRCh38)
X:70755950 (GRCh37)
Canonical SPDI:: NC_000023.11:71536099:T:G
Gene:: OGT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000019/2 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000023.11:g.71536100T>G, NC_000023.10:g.70755950T>G, NG_015875.1:g.8039T>G

Select item 149001369217.

rs1490013692 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:71540023 (GRCh38)
X:70759873 (GRCh37)
Canonical SPDI:: NC_000023.11:71540022:T:C
Gene:: OGT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/2 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.71540023T>C, NC_000023.10:g.70759873T>C, NG_015875.1:g.11962T>C

Select item 148996291418.

rs1489962914 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:71538452 (GRCh38)
X:70758302 (GRCh37)
Canonical SPDI:: NC_000023.11:71538451:T:C
Gene:: OGT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.71538452T>C, NC_000023.10:g.70758302T>C, NG_015875.1:g.10391T>C

Select item 148986299019.

rs1489862990 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:71542481 (GRCh38)
X:70762331 (GRCh37)
Canonical SPDI:: NC_000023.11:71542480:T:C
Gene:: OGT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.71542481T>C, NC_000023.10:g.70762331T>C, NG_015875.1:g.14420T>C

Select item 148982735820.

rs1489827358 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:71573232 (GRCh38)
X:70793082 (GRCh37)
Canonical SPDI:: NC_000023.11:71573231:G:T
Gene:: OGT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
T=0.000342/1 (KOREAN)
T=0.002835/36 (TOMMO)
HGVS:: NC_000023.11:g.71573232G>T, NC_000023.10:g.70793082G>T, NG_015875.1:g.45171G>T

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