Links from Gene
Items: 1 to 20 of 2065
1.
rs1491502851 has merged into rs10562426 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 3:45944208
(GRCh38)
3:45985700
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45944196:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000003.12:45944196:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000003.12:45944196:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000003.12:45944196:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000003.12:45944196:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:45944196:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:45944196:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- CXCR6 (Varview), FYCO1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.221101/1096
(1000Genomes)
- HGVS:
NC_000003.12:g.45944198GT[5], NC_000003.12:g.45944198GT[7], NC_000003.12:g.45944198GT[8], NC_000003.12:g.45944198GT[9], NC_000003.12:g.45944198GT[11], NC_000003.12:g.45944198GT[12], NC_000003.12:g.45944198GT[13], NC_000003.11:g.45985690GT[5], NC_000003.11:g.45985690GT[7], NC_000003.11:g.45985690GT[8], NC_000003.11:g.45985690GT[9], NC_000003.11:g.45985690GT[11], NC_000003.11:g.45985690GT[12], NC_000003.11:g.45985690GT[13], NG_031955.1:g.56609CA[5], NG_031955.1:g.56609CA[7], NG_031955.1:g.56609CA[8], NG_031955.1:g.56609CA[9], NG_031955.1:g.56609CA[11], NG_031955.1:g.56609CA[12], NG_031955.1:g.56609CA[13]
2.
rs1490671584 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:45946833
(GRCh38)
3:45988325
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45946832:C:T
- Gene:
- CXCR6 (Varview), FYCO1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(GnomAD_exomes)
T=0.000008/2
(TOPMED)
- HGVS:
NC_000003.12:g.45946833C>T, NC_000003.11:g.45988325C>T, NG_031955.1:g.53992G>A, NM_006564.2:c.352C>T, NM_006564.1:c.352C>T, NM_001386436.1:c.352C>T, NM_001386437.1:c.352C>T, NM_001386435.1:c.352C>T, NP_006555.1:p.Leu118Phe, NP_001373365.1:p.Leu118Phe, NP_001373366.1:p.Leu118Phe, NP_001373364.1:p.Leu118Phe
4.
rs1490337386 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:45943458
(GRCh38)
3:45984950
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45943457:T:C
- Gene:
- CXCR6 (Varview), FYCO1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000132/2
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000446/2
(Estonian)
- HGVS:
5.
rs1490133950 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 3:45941509
(GRCh38)
3:45983001
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45941508:A:C
- Gene:
- CXCR6 (Varview), FYCO1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
6.
rs1488622747 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 3:45940849
(GRCh38)
3:45982341
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45940848:C:G
- Gene:
- CXCR6 (Varview), FYCO1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.0016/7
(
ALFA)
G=0.0016/7
(Estonian)
- HGVS:
7.
rs1487349974 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:45946779
(GRCh38)
3:45988271
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45946778:G:T
- Gene:
- CXCR6 (Varview), FYCO1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,intron_variant,genic_downstream_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:
NC_000003.12:g.45946779G>T, NC_000003.11:g.45988271G>T, NG_031955.1:g.54046C>A, NM_006564.2:c.298G>T, NM_006564.1:c.298G>T, NM_001386436.1:c.298G>T, NM_001386437.1:c.298G>T, NM_001386435.1:c.298G>T, NP_006555.1:p.Val100Phe, NP_001373365.1:p.Val100Phe, NP_001373366.1:p.Val100Phe, NP_001373364.1:p.Val100Phe
8.
rs1487312467 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:45947653
(GRCh38)
3:45989145
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45947652:T:C
- Gene:
- CXCR6 (Varview), FYCO1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
9.
rs1486505599 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:45943623
(GRCh38)
3:45985115
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45943622:G:T
- Gene:
- CXCR6 (Varview), FYCO1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,genic_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:
10.
rs1486073805 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:45943451
(GRCh38)
3:45984943
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45943450:G:A
- Gene:
- CXCR6 (Varview), FYCO1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.00003/8
(TOPMED)
- HGVS:
11.
rs1486001732 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:45948398
(GRCh38)
3:45989890
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45948397:A:G
- Gene:
- CXCR6 (Varview), FYCO1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1484321036 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:45944182
(GRCh38)
3:45985674
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45944181:G:C
- Gene:
- CXCR6 (Varview), FYCO1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000045/12
(TOPMED)
C=0.000059/8
(GnomAD)
- HGVS:
14.
rs1482837242 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:45948824
(GRCh38)
3:45990316
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45948823:T:C
- Gene:
- CXCR6 (Varview), FYCO1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
15.
rs1482316686 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 3:45938772
(GRCh38)
3:45980264
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45938771:G:A,NC_000003.12:45938771:G:T
- Gene:
- FYCO1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
T=0.000035/1
(TOMMO)
A=0.000043/6
(GnomAD)
- HGVS:
16.
rs1482062927 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:45943786
(GRCh38)
3:45985278
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45943785:C:T
- Gene:
- CXCR6 (Varview), FYCO1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
17.
rs1481257962 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:45947398
(GRCh38)
3:45988890
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45947397:T:C
- Gene:
- CXCR6 (Varview), FYCO1 (Varview)
- Functional Consequence:
- missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
NC_000003.12:g.45947398T>C, NC_000003.11:g.45988890T>C, NG_031955.1:g.53427A>G, NM_006564.2:c.917T>C, NM_006564.1:c.917T>C, NM_001386436.1:c.917T>C, NM_001386437.1:c.917T>C, NM_001386435.1:c.917T>C, NP_006555.1:p.Ile306Thr, NP_001373365.1:p.Ile306Thr, NP_001373366.1:p.Ile306Thr, NP_001373364.1:p.Ile306Thr
18.
rs1481153346 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:45944600
(GRCh38)
3:45986092
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45944599:G:A
- Gene:
- CXCR6 (Varview), FYCO1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000035/1
(TOMMO)
A=0.000049/13
(TOPMED)
A=0.0001/14
(GnomAD)
A=0.000342/1
(KOREAN)
A=0.000546/1
(Korea1K)
- HGVS:
19.
rs1480967448 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:45946786
(GRCh38)
3:45988278
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45946785:G:A
- Gene:
- CXCR6 (Varview), FYCO1 (Varview)
- Functional Consequence:
- missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
- HGVS:
NC_000003.12:g.45946786G>A, NC_000003.11:g.45988278G>A, NG_031955.1:g.54039C>T, NM_006564.2:c.305G>A, NM_006564.1:c.305G>A, NM_001386436.1:c.305G>A, NM_001386437.1:c.305G>A, NM_001386435.1:c.305G>A, NP_006555.1:p.Cys102Tyr, NP_001373365.1:p.Cys102Tyr, NP_001373366.1:p.Cys102Tyr, NP_001373364.1:p.Cys102Tyr
20.
rs1480808703 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 3:45939370
(GRCh38)
3:45980862
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45939369:A:T
- Gene:
- CXCR6 (Varview), FYCO1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS: