Links from Gene
Items: 1 to 20 of 1000
1.
rs1490782531 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:51490855
(GRCh38)
X:51233707
(GRCh37)
- Canonical SPDI:
- NC_000023.11:51490854:T:C
- Gene:
- NUDT11 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
2.
rs1489799419 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:51492250
(GRCh38)
X:51235102
(GRCh37)
- Canonical SPDI:
- NC_000023.11:51492249:T:C
- Gene:
- NUDT11 (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:
3.
rs1489046285 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:51497160
(GRCh38)
X:51240012
(GRCh37)
- Canonical SPDI:
- NC_000023.11:51497159:C:T
- Gene:
- NUDT11 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
4.
rs1488843615 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAG>-
[Show Flanks]
- Chromosome:
- X:51493759
(GRCh38)
X:51236611
(GRCh37)
- Canonical SPDI:
- NC_000023.11:51493753:AAAAGAAAAG:AAAAG
- Gene:
- NUDT11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAAGAAAAG=0.000214/3
(
ALFA)
-=0.000023/6
(TOPMED)
- HGVS:
5.
rs1488822779 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:51492868
(GRCh38)
X:51235720
(GRCh37)
- Canonical SPDI:
- NC_000023.11:51492867:C:G
- Gene:
- NUDT11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000023/6
(TOPMED)
- HGVS:
6.
rs1488606491 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:51498199
(GRCh38)
X:51241051
(GRCh37)
- Canonical SPDI:
- NC_000023.11:51498198:G:A
- Gene:
- NUDT11 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
A=0.000039/4
(GnomAD)
A=0.000208/1
(1000Genomes)
- HGVS:
7.
rs1487454979 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:51494893
(GRCh38)
X:51237745
(GRCh37)
- Canonical SPDI:
- NC_000023.11:51494892:T:C
- Gene:
- NUDT11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000042/11
(TOPMED)
C=0.000045/1
(TOMMO)
C=0.000096/10
(GnomAD)
- HGVS:
8.
rs1487105406 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:51496412
(GRCh38)
X:51239264
(GRCh37)
- Canonical SPDI:
- NC_000023.11:51496411:G:A
- Gene:
- NUDT11 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.00001/1
(GnomAD)
A=0.000012/2
(GnomAD_exomes)
- HGVS:
9.
rs1486888904 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- X:51495028
(GRCh38)
X:51237880
(GRCh37)
- Canonical SPDI:
- NC_000023.11:51495027:G:A,NC_000023.11:51495027:G:C
- Gene:
- NUDT11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00001/1
(GnomAD)
- HGVS:
10.
rs1486853983 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:51494185
(GRCh38)
X:51237037
(GRCh37)
- Canonical SPDI:
- NC_000023.11:51494184:C:T
- Gene:
- NUDT11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
11.
rs1486473757 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:51495460
(GRCh38)
X:51238312
(GRCh37)
- Canonical SPDI:
- NC_000023.11:51495459:A:G
- Gene:
- NUDT11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000142/2
(
ALFA)
G=0.000019/2
(GnomAD)
G=0.000026/7
(TOPMED)
- HGVS:
13.
rs1485368973 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:51496954
(GRCh38)
X:51239806
(GRCh37)
- Canonical SPDI:
- NC_000023.11:51496953:C:T
- Gene:
- NUDT11 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000072/19
(TOPMED)
T=0.000076/8
(GnomAD)
- HGVS:
14.
rs1485145831 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:51497002
(GRCh38)
X:51239854
(GRCh37)
- Canonical SPDI:
- NC_000023.11:51497001:C:T
- Gene:
- NUDT11 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000019/2
(GnomAD)
- HGVS:
15.
rs1484927343 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:51496223
(GRCh38)
X:51239075
(GRCh37)
- Canonical SPDI:
- NC_000023.11:51496222:C:T
- Gene:
- NUDT11 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000005/1
(GnomAD_exomes)
T=0.00001/1
(GnomAD)
- HGVS:
17.
rs1484386294 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:51497384
(GRCh38)
X:51240236
(GRCh37)
- Canonical SPDI:
- NC_000023.11:51497383:C:G
- Gene:
- NUDT11 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000146/15
(GnomAD)
G=0.000204/54
(TOPMED)
G=0.000416/2
(1000Genomes)
- HGVS:
18.
rs1483563521 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:51493437
(GRCh38)
X:51236289
(GRCh37)
- Canonical SPDI:
- NC_000023.11:51493436:C:T
- Gene:
- NUDT11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
19.
rs1483525152 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- X:51496846
(GRCh38)
X:51239698
(GRCh37)
- Canonical SPDI:
- NC_000023.11:51496845:G:T
- Gene:
- NUDT11 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: