Links from Nucleotide
Items: 1 to 20 of 171
1.
rs1485759474 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 7:57172887
(GRCh38)
7:57240595
(GRCh37)
- Canonical SPDI:
- NC_000007.14:57172887:G:GG
- Gene:
- GUSBP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
2.
rs1485365561 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:57172970
(GRCh38)
7:57240677
(GRCh37)
- Canonical SPDI:
- NC_000007.14:57172969:A:G
- Gene:
- GUSBP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
4.
rs1475244285 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 7:57172949
(GRCh38)
7:57240656
(GRCh37)
- Canonical SPDI:
- NC_000007.14:57172948:A:T
- Gene:
- GUSBP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
5.
rs1472842397 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:57173286
(GRCh38)
7:57240993
(GRCh37)
- Canonical SPDI:
- NC_000007.14:57173285:T:C
- Gene:
- GUSBP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0.000034/9
(TOPMED)
C=0.000036/5
(GnomAD)
- HGVS:
6.
rs1469717738 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 7:57173159
(GRCh38)
7:57240867
(GRCh37)
- Canonical SPDI:
- NC_000007.14:57173159:AA:AAA
- Gene:
- GUSBP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1466968118 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:57173084
(GRCh38)
7:57240791
(GRCh37)
- Canonical SPDI:
- NC_000007.14:57173083:A:G
- Gene:
- GUSBP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
G=0.000036/1
(TOMMO)
- HGVS:
8.
rs1462477309 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 7:57173046
(GRCh38)
7:57240753
(GRCh37)
- Canonical SPDI:
- NC_000007.14:57173045:A:T
- Gene:
- GUSBP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
T=0.004717/1
(Vietnamese)
- HGVS:
9.
rs1461050566 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:57173139
(GRCh38)
7:57240846
(GRCh37)
- Canonical SPDI:
- NC_000007.14:57173138:G:A
- Gene:
- GUSBP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000022/3
(GnomAD)
- HGVS:
10.
rs1457732036 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:57173113
(GRCh38)
7:57240820
(GRCh37)
- Canonical SPDI:
- NC_000007.14:57173112:C:T
- Gene:
- GUSBP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1455675516 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:57173029
(GRCh38)
7:57240736
(GRCh37)
- Canonical SPDI:
- NC_000007.14:57173028:T:C
- Gene:
- GUSBP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
13.
rs1455416035 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:57173248
(GRCh38)
7:57240955
(GRCh37)
- Canonical SPDI:
- NC_000007.14:57173247:T:C
- Gene:
- GUSBP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
14.
rs1454037961 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:57172770
(GRCh38)
7:57240477
(GRCh37)
- Canonical SPDI:
- NC_000007.14:57172769:A:G
- Gene:
- GUSBP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000546/1
(Korea1K)
- HGVS:
15.
rs1446860549 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:57172982
(GRCh38)
7:57240689
(GRCh37)
- Canonical SPDI:
- NC_000007.14:57172981:C:A,NC_000007.14:57172981:C:T
- Gene:
- GUSBP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000023/6
(TOPMED)
- HGVS:
16.
rs1444320176 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 7:57172828
(GRCh38)
7:57240535
(GRCh37)
- Canonical SPDI:
- NC_000007.14:57172827:C:A
- Gene:
- GUSBP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
17.
rs1444273845 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:57172901
(GRCh38)
7:57240608
(GRCh37)
- Canonical SPDI:
- NC_000007.14:57172900:T:C
- Gene:
- GUSBP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1442120069 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:57173213
(GRCh38)
7:57240920
(GRCh37)
- Canonical SPDI:
- NC_000007.14:57173212:C:G
- Gene:
- GUSBP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
19.
rs1436328877 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:57173261
(GRCh38)
7:57240968
(GRCh37)
- Canonical SPDI:
- NC_000007.14:57173260:G:T
- Gene:
- GUSBP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS: