Links from Gene
Items: 1 to 20 of 7800
1.
rs1491535139 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- X:73820805
(GRCh38)
X:73040640
(GRCh37)
- Canonical SPDI:
- NC_000023.11:73820801:AGAGA:AGA
- Gene:
- XIST (Varview), TSIX (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGA=0./0
(
ALFA)
-=0.000006/1
(GnomAD_exomes)
-=0.000008/2
(TOPMED)
- HGVS:
2.
rs1491443284 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- X:73792681
(GRCh38)
X:73012516
(GRCh37)
- Canonical SPDI:
- NC_000023.11:73792678:TTTT:TT
- Gene:
- TSIX (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0./0
(
ALFA)
-=0.00009/1
(TOMMO)
-=0.00021/1
(1000Genomes)
- HGVS:
3.
rs1491109865 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- X:73820802
(GRCh38)
X:73040638
(GRCh37)
- Canonical SPDI:
- NC_000023.11:73820802::T
- Gene:
- XIST (Varview), TSIX (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000006/1
(GnomAD_exomes)
- HGVS:
4.
rs1490975787 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:73817106
(GRCh38)
X:73036941
(GRCh37)
- Canonical SPDI:
- NC_000023.11:73817105:G:A
- Gene:
- TSIX (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000142/2
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
5.
rs1490684476 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- X:73818630
(GRCh38)
X:73038465
(GRCh37)
- Canonical SPDI:
- NC_000023.11:73818629:G:A,NC_000023.11:73818629:G:T
- Gene:
- TSIX (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000019/2
(GnomAD)
- HGVS:
6.
rs1490597937 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- X:73790724
(GRCh38)
X:73010559
(GRCh37)
- Canonical SPDI:
- NC_000023.11:73790723:G:
- Gene:
- TSIX (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000029/3
(GnomAD)
-=0.000034/9
(TOPMED)
- HGVS:
7.
rs1490520604 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- X:73817721
(GRCh38)
X:73037557
(GRCh37)
- Canonical SPDI:
- NC_000023.11:73817721:C:CC
- Gene:
- TSIX (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.00002/2
(GnomAD)
- HGVS:
8.
rs1490468108 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- X:73807716
(GRCh38)
X:73027551
(GRCh37)
- Canonical SPDI:
- NC_000023.11:73807715:A:C
- Gene:
- TSIX (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000019/2
(GnomAD)
- HGVS:
9.
rs1490435593 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:73827728
(GRCh38)
X:73047563
(GRCh37)
- Canonical SPDI:
- NC_000023.11:73827727:T:C
- Gene:
- XIST (Varview), TSIX (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490309055 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:73807187
(GRCh38)
X:73027022
(GRCh37)
- Canonical SPDI:
- NC_000023.11:73807186:A:G
- Gene:
- TSIX (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
12.
rs1490307575 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- X:73828581
(GRCh38)
X:73048416
(GRCh37)
- Canonical SPDI:
- NC_000023.11:73828580:G:C
- Gene:
- XIST (Varview), TSIX (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
13.
rs1490274889 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATCT>-
[Show Flanks]
- Chromosome:
- X:73827024
(GRCh38)
X:73046859
(GRCh37)
- Canonical SPDI:
- NC_000023.11:73827016:TCTATCTATCT:TCTATCT
- Gene:
- XIST (Varview), TSIX (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TCTATCT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
15.
rs1489970767 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:73797009
(GRCh38)
X:73016844
(GRCh37)
- Canonical SPDI:
- NC_000023.11:73797008:T:C
- Gene:
- TSIX (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
16.
rs1489890377 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- X:73806905
(GRCh38)
X:73026740
(GRCh37)
- Canonical SPDI:
- NC_000023.11:73806903:GTG:G
- Gene:
- TSIX (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
17.
rs1489689416 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:73814199
(GRCh38)
X:73034034
(GRCh37)
- Canonical SPDI:
- NC_000023.11:73814198:T:C
- Gene:
- TSIX (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
18.
rs1489608004 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- X:73817259
(GRCh38)
X:73037094
(GRCh37)
- Canonical SPDI:
- NC_000023.11:73817258:G:T
- Gene:
- TSIX (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
19.
rs1489578382 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:73795351
(GRCh38)
X:73015186
(GRCh37)
- Canonical SPDI:
- NC_000023.11:73795350:G:A
- Gene:
- TSIX (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
20.
rs1489444135 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- X:73821991
(GRCh38)
X:73041826
(GRCh37)
- Canonical SPDI:
- NC_000023.11:73821990:A:T
- Gene:
- XIST (Varview), TSIX (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000111/1
(
ALFA)
T=0.000006/1
(GnomAD_exomes)
- HGVS: