Links from Gene
Items: 1 to 20 of 584
2.
rs1487623136 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:16899
(GRCh38)
1:16899
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16898:C:G
- Gene:
- WASH7P (Varview), MIR6859-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
3.
rs1485332822 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 1:17292
(GRCh38)
1:17292
(GRCh37)
- Canonical SPDI:
- NC_000001.11:17289:CTCT:CT
- Gene:
- WASH7P (Varview), MIR6859-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCT=0.000084/1
(
ALFA)
-=0.000308/43
(GnomAD)
- HGVS:
4.
rs1485074878 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 1:17885
(GRCh38)
1:17885
(GRCh37)
- Canonical SPDI:
- NC_000001.11:17884:T:A,NC_000001.11:17884:T:G
- Gene:
- WASH7P (Varview), MIR6859-1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.0012/19
(TOMMO)
A=0.00579/14
(KOREAN)
- HGVS:
5.
rs1484412875 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:19299
(GRCh38)
1:19299
(GRCh37)
- Canonical SPDI:
- NC_000001.11:19298:G:A,NC_000001.11:19298:G:T
- Gene:
- WASH7P (Varview), MIR6859-1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00031/5
(
ALFA)
A=0.00007/2
(TOMMO)
- HGVS:
7.
rs1484353408 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:17046
(GRCh38)
1:17046
(GRCh37)
- Canonical SPDI:
- NC_000001.11:17045:T:C
- Gene:
- WASH7P (Varview), MIR6859-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000253/3
(
ALFA)
C=0.0001/14
(GnomAD)
- HGVS:
8.
rs1483728811 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:17971
(GRCh38)
1:17971
(GRCh37)
- Canonical SPDI:
- NC_000001.11:17970:G:A,NC_000001.11:17970:G:T
- Gene:
- WASH7P (Varview), MIR6859-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00017/2
(
ALFA)
A=0.00063/4
(GnomAD)
A=0.00219/14
(1000Genomes)
- HGVS:
10.
rs1482748587 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:19234
(GRCh38)
1:19234
(GRCh37)
- Canonical SPDI:
- NC_000001.11:19233:A:G
- Gene:
- WASH7P (Varview), MIR6859-1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000084/1
(
ALFA)
G=0.000176/24
(GnomAD)
G=0.003333/2
(NorthernSweden)
- HGVS:
13.
rs1481832234 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:17970
(GRCh38)
1:17970
(GRCh37)
- Canonical SPDI:
- NC_000001.11:17969:C:T
- Gene:
- WASH7P (Varview), MIR6859-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00031/2
(1000Genomes)
- HGVS:
14.
rs1480462488 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 1:19229
(GRCh38)
1:19229
(GRCh37)
- Canonical SPDI:
- NC_000001.11:19228:C:A,NC_000001.11:19228:C:G,NC_000001.11:19228:C:T
- Gene:
- WASH7P (Varview), MIR6859-1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
15.
rs1479646528 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:17497
(GRCh38)
1:17497
(GRCh37)
- Canonical SPDI:
- NC_000001.11:17496:C:T
- Gene:
- WASH7P (Varview), MIR6859-1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000036/5
(GnomAD)
- HGVS:
16.
rs1478041193 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:17750
(GRCh38)
1:17750
(GRCh37)
- Canonical SPDI:
- NC_000001.11:17749:G:A,NC_000001.11:17749:G:T
- Gene:
- WASH7P (Varview), MIR6859-1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000089/12
(GnomAD)
A=0.000468/3
(1000Genomes)
G=0.5/4
(SGDP_PRJ)
- HGVS:
17.
rs1478000630 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:17388
(GRCh38)
1:17388
(GRCh37)
- Canonical SPDI:
- NC_000001.11:17387:G:A
- Gene:
- WASH7P (Varview), MIR6859-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1477382583 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:19392
(GRCh38)
1:19392
(GRCh37)
- Canonical SPDI:
- NC_000001.11:19391:C:A,NC_000001.11:19391:C:T
- Gene:
- WASH7P (Varview), MIR6859-1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00101/12
(
ALFA)
A=0.00001/1
(GnomAD)
T=0.00018/3
(TOMMO)
T=0.00212/6
(KOREAN)
- HGVS:
19.
rs1475804548 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 1:17474
(GRCh38)
1:17474
(GRCh37)
- Canonical SPDI:
- NC_000001.11:17473:C:A,NC_000001.11:17473:C:G,NC_000001.11:17473:C:T
- Gene:
- WASH7P (Varview), MIR6859-1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000051/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1475636397 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:17441
(GRCh38)
1:17441
(GRCh37)
- Canonical SPDI:
- NC_000001.11:17440:C:G
- Gene:
- WASH7P (Varview), MIR6859-1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: