Links from Gene
Items: 1 to 20 of 152
1.
rs1488963726 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:135803908
(GRCh38)
X:-1
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135803907:G:A
- Gene:
- CT45A6 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.30905/3666
(
ALFA)
A=0.04587/15
(TOMMO)
- HGVS:
2.
rs1486456269 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:135797393
(GRCh38)
X:-1
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135797392:C:T
- Gene:
- CT45A6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.01745/207
(
ALFA)
T=0.00009/2
(TOMMO)
T=0.00027/14
(GnomAD)
- HGVS:
6.
rs1473396188 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- X:135798252
(GRCh38)
X:-1
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135798252:TTTTT:TTTTTT
- Gene:
- CT45A6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTT=0.45304/5374
(
ALFA)
- HGVS:
10.
rs1466982688 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- X:135801530
(GRCh38)
X:-1
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135801529:C:A
- Gene:
- CT45A6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.14938/1772
(
ALFA)
C=0.5/10
(TOMMO)
- HGVS:
11.
rs1460726190 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:135797432
(GRCh38)
X:-1
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135797431:T:C
- Gene:
- CT45A6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00396/47
(
ALFA)
C=0.00031/20
(GnomAD)
- HGVS:
13.
rs1458129625 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:135803119
(GRCh38)
X:-1
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135803118:C:G
- Gene:
- CT45A6 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.34092/4044
(
ALFA)
G=0.18415/86
(TOMMO)
- HGVS:
14.
rs1454193571 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:135797041
(GRCh38)
X:-1
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135797040:C:T
- Gene:
- CT45A6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.00025/3
(
ALFA)
T=0.00324/14
(GnomAD)
- HGVS:
15.
rs1454179055 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:135797495
(GRCh38)
X:-1
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135797494:T:C
- Gene:
- CT45A6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00002/1
(GnomAD)
- HGVS:
20.
rs1439734163 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:135797589
(GRCh38)
X:-1
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135797588:G:A
- Gene:
- CT45A6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.18504/2195
(
ALFA)
A=0.10396/2236
(TOMMO)
- HGVS: