Links from Gene
Items: 1 to 20 of 2244
1.
rs1490865568 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:22446767
(GRCh38)
9:22446766
(GRCh37)
- Canonical SPDI:
- NC_000009.12:22446766:G:A
- Gene:
- DMRTA1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
2.
rs1490803470 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:22451766
(GRCh38)
9:22451765
(GRCh37)
- Canonical SPDI:
- NC_000009.12:22451765:C:T
- Gene:
- DMRTA1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490519952 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:22451226
(GRCh38)
9:22451225
(GRCh37)
- Canonical SPDI:
- NC_000009.12:22451225:T:C
- Gene:
- DMRTA1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000004/1
(TOPMED)
- HGVS:
4.
rs1489881495 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:22445915
(GRCh38)
9:22445914
(GRCh37)
- Canonical SPDI:
- NC_000009.12:22445914:G:A
- Gene:
- DMRTA1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489821858 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:22452190
(GRCh38)
9:22452189
(GRCh37)
- Canonical SPDI:
- NC_000009.12:22452189:T:C
- Gene:
- DMRTA1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
6.
rs1489743945 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:22447211
(GRCh38)
9:22447210
(GRCh37)
- Canonical SPDI:
- NC_000009.12:22447210:G:A
- Gene:
- DMRTA1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
A=0.000011/2
(GnomAD_exomes)
- HGVS:
7.
rs1489711432 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 9:22448265
(GRCh38)
9:22448264
(GRCh37)
- Canonical SPDI:
- NC_000009.12:22448264:G:A,NC_000009.12:22448264:G:T
- Gene:
- DMRTA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1488947740 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:22448710
(GRCh38)
9:22448709
(GRCh37)
- Canonical SPDI:
- NC_000009.12:22448709:T:A
- Gene:
- DMRTA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000042/11
(TOPMED)
A=0.000086/12
(GnomAD)
- HGVS:
9.
rs1488619795 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:22448230
(GRCh38)
9:22448229
(GRCh37)
- Canonical SPDI:
- NC_000009.12:22448229:A:G
- Gene:
- DMRTA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1488104405 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:22447953
(GRCh38)
9:22447952
(GRCh37)
- Canonical SPDI:
- NC_000009.12:22447952:T:A
- Gene:
- DMRTA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1487426265 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:22449174
(GRCh38)
9:22449173
(GRCh37)
- Canonical SPDI:
- NC_000009.12:22449173:G:A
- Gene:
- DMRTA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1487331180 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:22448337
(GRCh38)
9:22448336
(GRCh37)
- Canonical SPDI:
- NC_000009.12:22448336:G:A
- Gene:
- DMRTA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1487313425 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:22446910
(GRCh38)
9:22446909
(GRCh37)
- Canonical SPDI:
- NC_000009.12:22446909:C:T
- Gene:
- DMRTA1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
14.
rs1487300053 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:22446234
(GRCh38)
9:22446233
(GRCh37)
- Canonical SPDI:
- NC_000009.12:22446233:G:C
- Gene:
- DMRTA1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1486670249 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:22450466
(GRCh38)
9:22450465
(GRCh37)
- Canonical SPDI:
- NC_000009.12:22450465:A:G
- Gene:
- DMRTA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1486590319 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 9:22451075
(GRCh38)
9:22451074
(GRCh37)
- Canonical SPDI:
- NC_000009.12:22451070:AGAGAG:AGAG
- Gene:
- DMRTA1 (Varview)
- Functional Consequence:
- coding_sequence_variant,stop_gained
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
17.
rs1486419375 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGTGGTAAAATA
[Show Flanks]
- Chromosome:
- 9:22449199
(GRCh38)
9:22449199
(GRCh37)
- Canonical SPDI:
- NC_000009.12:22449199:TGTGGTAAAATA:TGTGGTAAAATATGTGGTAAAATA
- Gene:
- DMRTA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTGGTAAAATATGTGGTAAAATA=0./0
(
ALFA)
TGTGGTAAAATA=0.000004/1
(TOPMED)
- HGVS:
18.
rs1486386711 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:22450255
(GRCh38)
9:22450254
(GRCh37)
- Canonical SPDI:
- NC_000009.12:22450254:A:G
- Gene:
- DMRTA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1486182487 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 9:22452909
(GRCh38)
9:22452908
(GRCh37)
- Canonical SPDI:
- NC_000009.12:22452908:A:C
- Gene:
- DMRTA1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: