Links from Gene
Items: 1 to 20 of 587
1.
rs1488063401 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:68184390
(GRCh38)
1:68650073
(GRCh37)
- Canonical SPDI:
- NC_000001.11:68184389:A:G
- Gene:
- WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
2.
rs1486667417 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:68184660
(GRCh38)
1:68650343
(GRCh37)
- Canonical SPDI:
- NC_000001.11:68184659:C:G
- Gene:
- WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
4.
rs1482373562 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:68183461
(GRCh38)
1:68649144
(GRCh37)
- Canonical SPDI:
- NC_000001.11:68183460:C:T
- Gene:
- WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000026/7
(TOPMED)
- HGVS:
5.
rs1479818774 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:68184628
(GRCh38)
1:68650311
(GRCh37)
- Canonical SPDI:
- NC_000001.11:68184627:G:C
- Gene:
- WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000342/1
(KOREAN)
- HGVS:
7.
rs1478032882 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 1:68183313
(GRCh38)
1:68648996
(GRCh37)
- Canonical SPDI:
- NC_000001.11:68183312:T:A,NC_000001.11:68183312:T:C
- Gene:
- WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
8.
rs1476353445 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:68185365
(GRCh38)
1:68651048
(GRCh37)
- Canonical SPDI:
- NC_000001.11:68185364:A:G
- Gene:
- WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_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.
rs1476003061 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:68184462
(GRCh38)
1:68650145
(GRCh37)
- Canonical SPDI:
- NC_000001.11:68184461:T:C
- Gene:
- WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
12.
rs1471330835 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:68185140
(GRCh38)
1:68650823
(GRCh37)
- Canonical SPDI:
- NC_000001.11:68185139:C:T
- Gene:
- WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1470252291 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:68184220
(GRCh38)
1:68649903
(GRCh37)
- Canonical SPDI:
- NC_000001.11:68184219:C:A,NC_000001.11:68184219:C:T
- Gene:
- WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000029/4
(GnomAD)
- HGVS:
14.
rs1469204765 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TTCT
[Show Flanks]
- Chromosome:
- 1:68185454
(GRCh38)
1:68651138
(GRCh37)
- Canonical SPDI:
- NC_000001.11:68185454::TTCT
- Gene:
- WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTCT=0./0
(
ALFA)
TTCT=0.000036/5
(GnomAD)
- HGVS:
15.
rs1468729510 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 1:68185379
(GRCh38)
1:68651062
(GRCh37)
- Canonical SPDI:
- NC_000001.11:68185378:T:A,NC_000001.11:68185378:T:C
- Gene:
- WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
16.
rs1467381261 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:68184951
(GRCh38)
1:68650634
(GRCh37)
- Canonical SPDI:
- NC_000001.11:68184950:A:T
- Gene:
- WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1466273488 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:68183489
(GRCh38)
1:68649172
(GRCh37)
- Canonical SPDI:
- NC_000001.11:68183488:C:G
- Gene:
- WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,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:
18.
rs1464391971 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:68183398
(GRCh38)
1:68649081
(GRCh37)
- Canonical SPDI:
- NC_000001.11:68183397:A:G
- Gene:
- WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1463324099 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:68184094
(GRCh38)
1:68649777
(GRCh37)
- Canonical SPDI:
- NC_000001.11:68184093:A:T
- Gene:
- WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000038/10
(TOPMED)
T=0.00005/7
(GnomAD)
- HGVS:
20.
rs1463292127 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 1:68184263
(GRCh38)
1:68649946
(GRCh37)
- Canonical SPDI:
- NC_000001.11:68184262:A:G,NC_000001.11:68184262:A:T
- Gene:
- WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
T=0.000035/1
(TOMMO)
G=0.000036/5
(GnomAD)
G=0.00006/16
(TOPMED)
- HGVS: