Links from Gene
Items: 1 to 20 of 718
1.
rs1490839649 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:65142040
(GRCh38)
9:-1
(GRCh37)
- Canonical SPDI:
- NC_000009.12:65142039:T:A
- Gene:
- LOC102724507 (Varview), LOC105379443 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00016/8
(GnomAD)
A=0.00078/5
(1000Genomes)
A=0.00235/62
(TOMMO)
A=0.00671/12
(Korea1K)
- HGVS:
3.
rs1490676455 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:65142801
(GRCh38)
9:-1
(GRCh37)
- Canonical SPDI:
- NC_000009.12:65142800:T:A
- Gene:
- LOC102724507 (Varview), LOC105379443 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000009.12:g.65142801T>A, XR_428496.4:n.274A>T, XR_428496.3:n.272A>T, XR_428496.2:n.284A>T, XR_428496.1:n.284A>T, XR_950672.4:n.272A>T, XR_950672.3:n.270A>T, XR_950672.2:n.270A>T, XR_950672.1:n.284A>T, XR_428498.4:n.262A>T, XR_428498.3:n.262A>T, XR_428498.2:n.284A>T, XR_428498.1:n.284A>T, XR_950675.3:n.264A>T, XR_950675.2:n.264A>T, XR_950675.1:n.284A>T, XR_001746680.3:n.260A>T, XR_001746680.2:n.261A>T, XR_001746680.1:n.261A>T, XR_950674.2:n.264A>T, XR_950674.1:n.284A>T, XR_001746681.1:n.264A>T
6.
rs1490211011 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:65137684
(GRCh38)
9:-1
(GRCh37)
- Canonical SPDI:
- NC_000009.12:65137683:G:A
- Gene:
- LOC102724507 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.00008/1
(
ALFA)
A=0.00005/2
(GnomAD)
- HGVS:
9.
rs1488569872 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:65137335
(GRCh38)
9:-1
(GRCh37)
- Canonical SPDI:
- NC_000009.12:65137334:G:C
- Gene:
- LOC102724507 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00004/1
(GnomAD)
- HGVS:
10.
rs1487313648 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGA>-
[Show Flanks]
- Chromosome:
- 9:65136284
(GRCh38)
9:2
(GRCh37)
- Canonical SPDI:
- NC_000009.12:65136280:TGATGA:TGA
- Gene:
- LOC102724507 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGATGA=0./0
(
ALFA)
-=0.00017/3
(GnomAD)
- HGVS:
11.
rs1487265452 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:65144711
(GRCh38)
9:-1
(GRCh37)
- Canonical SPDI:
- NC_000009.12:65144710:C:T
- Gene:
- LOC102724507 (Varview), LOC105379443 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00008/2
(GnomAD)
- HGVS:
12.
rs1486177029 has merged into rs1221631617 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 9:65138493
(GRCh38)
9:-1
(GRCh37)
- Canonical SPDI:
- NC_000009.12:65138492:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:65138492:AAAAAAAAAAAAA:AAAAAAAAAAAAAA
- Gene:
- LOC102724507 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.00114/13
(TOMMO)
-=0.00156/10
(1000Genomes)
- HGVS:
14.
rs1485524925 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 9:65137451
(GRCh38)
9:-1
(GRCh37)
- Canonical SPDI:
- NC_000009.12:65137450:A:C
- Gene:
- LOC102724507 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00019/5
(TOMMO)
- HGVS:
15.
rs1485392318 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 9:65139028
(GRCh38)
9:-1
(GRCh37)
- Canonical SPDI:
- NC_000009.12:65139027:A:C
- Gene:
- LOC102724507 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.01416/168
(
ALFA)
C=0.11379/1165
(TOMMO)
C=0.14072/94
(Korea1K)
- HGVS:
17.
rs1482332085 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:65144127
(GRCh38)
9:-1
(GRCh37)
- Canonical SPDI:
- NC_000009.12:65144126:T:C
- Gene:
- LOC102724507 (Varview), LOC105379443 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000009.12:g.65144127T>C, XR_428496.4:n.39A>G, XR_428496.3:n.37A>G, XR_428496.2:n.49A>G, XR_428496.1:n.49A>G, XR_950672.4:n.37A>G, XR_950672.3:n.35A>G, XR_950672.2:n.35A>G, XR_950672.1:n.49A>G, XR_428498.4:n.27A>G, XR_428498.3:n.27A>G, XR_428498.2:n.49A>G, XR_428498.1:n.49A>G, XR_950675.3:n.29A>G, XR_950675.2:n.29A>G, XR_950675.1:n.49A>G, XR_001746680.3:n.25A>G, XR_001746680.2:n.26A>G, XR_001746680.1:n.26A>G, XR_950674.2:n.29A>G, XR_950674.1:n.49A>G, XR_001746681.1:n.29A>G
19.
rs1482065026 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 9:65143564
(GRCh38)
9:-1
(GRCh37)
- Canonical SPDI:
- NC_000009.12:65143563:C:A,NC_000009.12:65143563:C:G
- Gene:
- LOC102724507 (Varview), LOC105379443 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.00202/24
(
ALFA)
A=0.00056/10
(TOMMO)
- HGVS: