Links from Gene
Items: 1 to 20 of 919
1.
rs1490888427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 8:85663667
(GRCh38)
8:86575896
(GRCh37)
- Canonical SPDI:
- NC_000008.11:85663666:A:C,NC_000008.11:85663666:A:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00087/14
(
ALFA)
T=0.00333/55
(TOMMO)
T=0.0068/12
(Korea1K)
T=0.00854/24
(KOREAN)
- HGVS:
2.
rs1490805255 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 8:85661623
(GRCh38)
8:86573852
(GRCh37)
- Canonical SPDI:
- NC_000008.11:85661622:G:A,NC_000008.11:85661622:G:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000017/2
(GnomAD_exomes)
A=0.001028/3
(KOREAN)
- HGVS:
3.
rs1490696941 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 8:85662286
(GRCh38)
8:86574515
(GRCh37)
- Canonical SPDI:
- NC_000008.11:85662285:C:A,NC_000008.11:85662285:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000009/1
(GnomAD_exomes)
T=0.000025/3
(GnomAD)
- HGVS:
5.
rs1490529995 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:85662957
(GRCh38)
8:86575186
(GRCh37)
- Canonical SPDI:
- NC_000008.11:85662956:C:T
- Validated:
- by frequency
- MAF:
T=0.00003/1
(GnomAD_exomes)
- HGVS:
7.
rs1489826276 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 8:85662283
(GRCh38)
8:86574512
(GRCh37)
- Canonical SPDI:
- NC_000008.11:85662282:C:A,NC_000008.11:85662282:C:G,NC_000008.11:85662282:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000008/1
(GnomAD)
G=0.00221/4
(Korea1K)
- HGVS:
NC_000008.11:g.85662283C>A, NC_000008.11:g.85662283C>G, NC_000008.11:g.85662283C>T, NC_000008.10:g.86574512C>A, NC_000008.10:g.86574512C>G, NC_000008.10:g.86574512C>T, NG_053157.1:g.228G>T, NG_053157.1:g.228G>C, NG_053157.1:g.228G>A, NM_172239.4:c.1215G>T, NM_172239.4:c.1215G>C, NM_172239.4:c.1215G>A
8.
rs1489631770 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 8:85663397
(GRCh38)
8:86575626
(GRCh37)
- Canonical SPDI:
- NC_000008.11:85663396:C:G,NC_000008.11:85663396:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0./0
(SGDP_PRJ)
T=0.00008/1
(TOMMO)
G=0.00746/78
(GnomAD_exomes)
G=0.01597/39
(KOREAN)
- HGVS:
9.
rs1488992293 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 8:85661451
(GRCh38)
8:86573680
(GRCh37)
- Canonical SPDI:
- NC_000008.11:85661450:T:C,NC_000008.11:85661450:T:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000668/9
(
ALFA)
C=0.000035/1
(TOMMO)
G=0.000568/77
(GnomAD)
G=0.001093/7
(1000Genomes)
- HGVS:
11.
rs1488629247 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 8:85664053
(GRCh38)
8:86576282
(GRCh37)
- Canonical SPDI:
- NC_000008.11:85664052:G:A,NC_000008.11:85664052:G:C,NC_000008.11:85664052:G:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
G=0./0
(SGDP_PRJ)
A=0.000008/1
(GnomAD)
- HGVS:
12.
rs1487081425 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 8:85662953
(GRCh38)
8:86575182
(GRCh37)
- Canonical SPDI:
- NC_000008.11:85662952:G:A,NC_000008.11:85662952:G:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.00003/1
(GnomAD_exomes)
- HGVS:
14.
rs1486560847 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 8:85663987
(GRCh38)
8:86576216
(GRCh37)
- Canonical SPDI:
- NC_000008.11:85663986:G:A,NC_000008.11:85663986:G:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
G=0./0
(SGDP_PRJ)
C=0.000032/4
(GnomAD)
- HGVS:
15.
rs1486525628 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:85663193
(GRCh38)
8:86575422
(GRCh37)
- Canonical SPDI:
- NC_000008.11:85663192:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00005/3
(GnomAD)
- HGVS:
16.
rs1485520645 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:85663095
(GRCh38)
8:86575324
(GRCh37)
- Canonical SPDI:
- NC_000008.11:85663094:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0./0
(SGDP_PRJ)
T=0.00002/1
(GnomAD)
- HGVS:
17.
rs1485096599 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 8:85662751
(GRCh38)
8:86574980
(GRCh37)
- Canonical SPDI:
- NC_000008.11:85662750:C:A,NC_000008.11:85662750:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.01842/291
(TOMMO)
A=0.0241/64
(KOREAN)
A=0.05263/2
(GnomAD_exomes)
- HGVS:
18.
rs1484805475 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 8:85661217
(GRCh38)
8:86573446
(GRCh37)
- Canonical SPDI:
- NC_000008.11:85661216:G:A,NC_000008.11:85661216:G:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/1
(GnomAD)
- HGVS:
20.
rs1484331230 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 8:85661531
(GRCh38)
8:86573760
(GRCh37)
- Canonical SPDI:
- NC_000008.11:85661530:T:C,NC_000008.11:85661530:T:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000048/1
(
ALFA)
C=0.000022/3
(GnomAD)
- HGVS: