Links from Gene
Items: 1 to 20 of 5688
1.
rs1491408157 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AC
[Show Flanks]
- Chromosome:
- 14:19929405
(GRCh38)
14:20397565
(GRCh37)
- Canonical SPDI:
- NC_000014.9:19929405:C:CAC
- Gene:
- OR4K1 (Varview), LOC124903278 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
CA=0.000008/1
(GnomAD)
- HGVS:
2.
rs1491270429 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 14:19924400
(GRCh38)
14:20392559
(GRCh37)
- Canonical SPDI:
- NC_000014.9:19924399:CA:
- Gene:
- OR4K1 (Varview), LOC124903278 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00093/11
(
ALFA)
-=0.00038/10
(TOMMO)
- HGVS:
3.
rs1491266233 has merged into rs1491109070 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CG>-,CGCG
[Show Flanks]
- Chromosome:
- 14:19929406
(GRCh38)
14:20397565
(GRCh37)
- Canonical SPDI:
- NC_000014.9:19929404:GCG:G,NC_000014.9:19929404:GCG:GCGCG
- Gene:
- OR4K1 (Varview), LOC124903278 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCGCG=0./0
(
ALFA)
GC=0.00004/1
(TOMMO)
-=0.07421/286
(ALSPAC)
-=0.07524/279
(TWINSUK)
- HGVS:
4.
rs1491109070 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CG>-,CGCG
[Show Flanks]
- Chromosome:
- 14:19929406
(GRCh38)
14:20397565
(GRCh37)
- Canonical SPDI:
- NC_000014.9:19929404:GCG:G,NC_000014.9:19929404:GCG:GCGCG
- Gene:
- OR4K1 (Varview), LOC124903278 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCGCG=0./0
(
ALFA)
GC=0.00004/1
(TOMMO)
-=0.07421/286
(ALSPAC)
-=0.07524/279
(TWINSUK)
- HGVS:
5.
rs1491074387 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 14:19922078
(GRCh38)
14:20390237
(GRCh37)
- Canonical SPDI:
- NC_000014.9:19922077:CA:
- Gene:
- OR4K5 (Varview), OR4K1 (Varview), LOC124903278 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000084/1
(
ALFA)
-=0.000035/1
(TOMMO)
-=0.000143/17
(GnomAD)
- HGVS:
6.
rs1490992582 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:19932098
(GRCh38)
14:20400257
(GRCh37)
- Canonical SPDI:
- NC_000014.9:19932097:G:A
- Gene:
- OR4K1 (Varview), LOC124903278 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490947343 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 14:19934776
(GRCh38)
14:20402935
(GRCh37)
- Canonical SPDI:
- NC_000014.9:19934775:T:C,NC_000014.9:19934775:T:G
- Gene:
- OR4K1 (Varview), LOC124903278 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0./0
(GnomAD)
C=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490901108 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:19930272
(GRCh38)
14:20398431
(GRCh37)
- Canonical SPDI:
- NC_000014.9:19930271:A:T
- Gene:
- OR4K1 (Varview), LOC124903278 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490849299 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:19922064
(GRCh38)
14:20390223
(GRCh37)
- Canonical SPDI:
- NC_000014.9:19922063:G:C
- Gene:
- OR4K5 (Varview), OR4K1 (Varview), LOC124903278 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/1
(GnomAD)
- HGVS:
11.
rs1490505583 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 14:19934454
(GRCh38)
14:20402613
(GRCh37)
- Canonical SPDI:
- NC_000014.9:19934453:T:A
- Gene:
- OR4K1 (Varview), LOC124903278 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490483088 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:19923062
(GRCh38)
14:20391221
(GRCh37)
- Canonical SPDI:
- NC_000014.9:19923061:A:G
- Gene:
- OR4K1 (Varview), LOC124903278 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
13.
rs1490455628 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:19935075
(GRCh38)
14:20403234
(GRCh37)
- Canonical SPDI:
- NC_000014.9:19935074:C:T
- Gene:
- OR4K1 (Varview), LOC124903278 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490173952 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 14:19931205
(GRCh38)
14:20399364
(GRCh37)
- Canonical SPDI:
- NC_000014.9:19931204:C:A,NC_000014.9:19931204:C:G
- Gene:
- OR4K1 (Varview), LOC124903278 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490158549 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 14:19922437
(GRCh38)
14:20390596
(GRCh37)
- Canonical SPDI:
- NC_000014.9:19922436:C:A,NC_000014.9:19922436:C:T
- Gene:
- OR4K1 (Varview), LOC124903278 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490081867 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:19929465
(GRCh38)
14:20397624
(GRCh37)
- Canonical SPDI:
- NC_000014.9:19929464:T:C
- Gene:
- OR4K1 (Varview), LOC124903278 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000312/2
(1000Genomes)
- HGVS:
17.
rs1489697912 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:19927798
(GRCh38)
14:20395957
(GRCh37)
- Canonical SPDI:
- NC_000014.9:19927797:C:A
- Gene:
- OR4K1 (Varview), LOC124903278 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000342/1
(KOREAN)
- HGVS:
18.
rs1489632915 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:19923472
(GRCh38)
14:20391631
(GRCh37)
- Canonical SPDI:
- NC_000014.9:19923471:A:T
- Gene:
- OR4K1 (Varview), LOC124903278 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
19.
rs1489630071 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 14:19928700
(GRCh38)
14:20396859
(GRCh37)
- Canonical SPDI:
- NC_000014.9:19928699:T:A,NC_000014.9:19928699:T:C
- Gene:
- OR4K1 (Varview), LOC124903278 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
C=0.000035/1
(TOMMO)
- HGVS:
20.
rs1489465849 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:19932489
(GRCh38)
14:20400648
(GRCh37)
- Canonical SPDI:
- NC_000014.9:19932488:C:G
- Gene:
- OR4K1 (Varview), LOC124903278 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000043/6
(GnomAD)
- HGVS: