Links from Gene
Items: 1 to 20 of 1052
1.
rs1491514619 has merged into rs397959541 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:20685209
(GRCh38)
9:20685208
(GRCh37)
- Canonical SPDI:
- NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:20685196:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FOCAD (Varview), FOCAD-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
NC_000009.12:g.20685209_20685210del, NC_000009.12:g.20685210del, NC_000009.12:g.20685210dup, NC_000009.12:g.20685209_20685210dup, NC_000009.12:g.20685208_20685210dup, NC_000009.12:g.20685207_20685210dup, NC_000009.12:g.20685206_20685210dup, NC_000009.12:g.20685205_20685210dup, NC_000009.12:g.20685204_20685210dup, NC_000009.12:g.20685203_20685210dup, NC_000009.12:g.20685202_20685210dup, NC_000009.12:g.20685201_20685210dup, NC_000009.12:g.20685200_20685210dup, NC_000009.12:g.20685199_20685210dup, NC_000009.12:g.20685198_20685210dup, NC_000009.12:g.20685197_20685210dup, NC_000009.12:g.20685210_20685211insTTTTTTTTTTTTTTT, NC_000009.12:g.20685210_20685211insTTTTTTTTTTTTTTTT, NC_000009.12:g.20685210_20685211insTTTTTTTTTTTTTTTTT, NC_000009.12:g.20685210_20685211insTTTTTTTTTTTTTTTTTT, NC_000009.12:g.20685210_20685211insTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.20685210_20685211insTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.20685210_20685211insTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.20685210_20685211insTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.20685210_20685211insTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.20685210_20685211insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.20685210_20685211insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.20685210_20685211insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.20685210_20685211insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.20685210_20685211insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.20685210_20685211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.20685210_20685211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.20685210_20685211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.20685210_20685211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.20685210_20685211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.20685210_20685211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.20685210_20685211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.20685210_20685211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.20685210_20685211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.20685208_20685209del, NC_000009.11:g.20685209del, NC_000009.11:g.20685209dup, NC_000009.11:g.20685208_20685209dup, NC_000009.11:g.20685207_20685209dup, NC_000009.11:g.20685206_20685209dup, NC_000009.11:g.20685205_20685209dup, NC_000009.11:g.20685204_20685209dup, NC_000009.11:g.20685203_20685209dup, NC_000009.11:g.20685202_20685209dup, NC_000009.11:g.20685201_20685209dup, NC_000009.11:g.20685200_20685209dup, NC_000009.11:g.20685199_20685209dup, NC_000009.11:g.20685198_20685209dup, NC_000009.11:g.20685197_20685209dup, NC_000009.11:g.20685196_20685209dup, NC_000009.11:g.20685209_20685210insTTTTTTTTTTTTTTT, NC_000009.11:g.20685209_20685210insTTTTTTTTTTTTTTTT, NC_000009.11:g.20685209_20685210insTTTTTTTTTTTTTTTTT, NC_000009.11:g.20685209_20685210insTTTTTTTTTTTTTTTTTT, NC_000009.11:g.20685209_20685210insTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.20685209_20685210insTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.20685209_20685210insTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.20685209_20685210insTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.20685209_20685210insTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.20685209_20685210insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.20685209_20685210insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.20685209_20685210insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.20685209_20685210insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.20685209_20685210insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.20685209_20685210insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.20685209_20685210insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.20685209_20685210insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.20685209_20685210insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.20685209_20685210insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.20685209_20685210insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.20685209_20685210insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.20685209_20685210insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.20685209_20685210insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
2.
rs1491134669 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 9:20685197
(GRCh38)
9:20685197
(GRCh37)
- Canonical SPDI:
- NC_000009.12:20685197::A
- Gene:
- FOCAD (Varview), FOCAD-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000012/1
(GnomAD)
- HGVS:
3.
rs1490675736 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:20684779
(GRCh38)
9:20684778
(GRCh37)
- Canonical SPDI:
- NC_000009.12:20684778:C:G
- Gene:
- FOCAD (Varview), FOCAD-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
4.
rs1489581162 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:20684192
(GRCh38)
9:20684191
(GRCh37)
- Canonical SPDI:
- NC_000009.12:20684191:C:T
- Gene:
- FOCAD (Varview), FOCAD-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489095548 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 9:20684046
(GRCh38)
9:20684045
(GRCh37)
- Canonical SPDI:
- NC_000009.12:20684045:C:A,NC_000009.12:20684045:C:T
- Gene:
- FOCAD (Varview), FOCAD-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
6.
rs1489022809 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 9:20686494
(GRCh38)
9:20686493
(GRCh37)
- Canonical SPDI:
- NC_000009.12:20686493:T:G
- Gene:
- FOCAD (Varview), FOCAD-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
7.
rs1488301647 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 9:20684148
(GRCh38)
9:20684147
(GRCh37)
- Canonical SPDI:
- NC_000009.12:20684147:GGG:GG
- Gene:
- FOCAD (Varview), FOCAD-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
-=0.000156/1
(1000Genomes)
-=0.003751/63
(TOMMO)
- HGVS:
8.
rs1488169226 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 9:20684759
(GRCh38)
9:20684758
(GRCh37)
- Canonical SPDI:
- NC_000009.12:20684758:T:G
- Gene:
- FOCAD (Varview), FOCAD-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
9.
rs1487304357 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:20684423
(GRCh38)
9:20684422
(GRCh37)
- Canonical SPDI:
- NC_000009.12:20684422:G:A
- Gene:
- FOCAD (Varview), FOCAD-AS1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
10.
rs1487144676 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:20685690
(GRCh38)
9:20685689
(GRCh37)
- Canonical SPDI:
- NC_000009.12:20685689:G:A
- Gene:
- FOCAD (Varview), FOCAD-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000895/4
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000893/4
(Estonian)
- HGVS:
11.
rs1486998570 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 9:20683990
(GRCh38)
9:20683989
(GRCh37)
- Canonical SPDI:
- NC_000009.12:20683989:C:
- Gene:
- FOCAD (Varview), FOCAD-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
12.
rs1483513807 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:20685030
(GRCh38)
9:20685029
(GRCh37)
- Canonical SPDI:
- NC_000009.12:20685029:G:C
- Gene:
- FOCAD (Varview), FOCAD-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
13.
rs1483288318 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 9:20683189
(GRCh38)
9:20683188
(GRCh37)
- Canonical SPDI:
- NC_000009.12:20683188:T:G
- Gene:
- FOCAD (Varview), FOCAD-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
14.
rs1481409444 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 9:20686003
(GRCh38)
9:20686002
(GRCh37)
- Canonical SPDI:
- NC_000009.12:20686002:A:C,NC_000009.12:20686002:A:G
- Gene:
- FOCAD (Varview), FOCAD-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
15.
rs1481132351 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 9:20685195
(GRCh38)
9:20685194
(GRCh37)
- Canonical SPDI:
- NC_000009.12:20685194:A:C
- Gene:
- FOCAD (Varview), FOCAD-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000018/2
(GnomAD)
- HGVS:
16.
rs1480487591 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:20683583
(GRCh38)
9:20683582
(GRCh37)
- Canonical SPDI:
- NC_000009.12:20683582:A:G
- Gene:
- FOCAD (Varview), FOCAD-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_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:
17.
rs1480233251 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:20686716
(GRCh38)
9:20686715
(GRCh37)
- Canonical SPDI:
- NC_000009.12:20686715:A:G
- Gene:
- FOCAD (Varview), FOCAD-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000019/5
(TOPMED)
G=0.000071/1
(TOMMO)
- HGVS:
18.
rs1480038786 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:20685759
(GRCh38)
9:20685758
(GRCh37)
- Canonical SPDI:
- NC_000009.12:20685758:A:G
- Gene:
- FOCAD (Varview), FOCAD-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000023/6
(TOPMED)
G=0.000389/7
(TOMMO)
G=0.001027/3
(KOREAN)
- HGVS:
19.
rs1479247877 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:20684064
(GRCh38)
9:20684063
(GRCh37)
- Canonical SPDI:
- NC_000009.12:20684063:G:A
- Gene:
- FOCAD (Varview), FOCAD-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS: