Links from Gene
Items: 1 to 20 of 948
1.
rs1490919619 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:20035148
(GRCh38)
14:20503307
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20035147:T:G
- Gene:
- OR4K13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490062733 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:20034691
(GRCh38)
14:20502850
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20034690:A:T
- Gene:
- OR4K13 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000111/1
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1489921654 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 14:20035205
(GRCh38)
14:20503364
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20035204:AA:A
- Gene:
- OR4K13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489895630 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:20034231
(GRCh38)
14:20502390
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20034230:G:A
- Gene:
- OR4K13 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
6.
rs1489570993 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:20034790
(GRCh38)
14:20502949
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20034789:A:G
- Gene:
- OR4K13 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency
- MAF:
G=0.000005/1
(GnomAD_exomes)
- HGVS:
7.
rs1488990732 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 14:20036583
(GRCh38)
14:20504742
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20036582:A:C,NC_000014.9:20036582:A:T
- Gene:
- OR4K13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
C=0.007096/13
(Korea1K)
- HGVS:
8.
rs1488076984 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:20033908
(GRCh38)
14:20502067
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20033907:G:C
- Gene:
- OR4K13 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1488031952 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:20035190
(GRCh38)
14:20503349
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20035189:C:A
- Gene:
- OR4K13 (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:
10.
rs1487111314 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:20036449
(GRCh38)
14:20504608
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20036448:T:C
- Gene:
- OR4K13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
11.
rs1486996050 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:20035617
(GRCh38)
14:20503776
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20035616:A:G
- Gene:
- OR4K13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1485864553 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:20035411
(GRCh38)
14:20503570
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20035410:G:C
- Gene:
- OR4K13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1483019593 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 14:20036635
(GRCh38)
14:20504795
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20036635::C
- Gene:
- OR4K13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000025/3
(GnomAD)
- HGVS:
14.
rs1481727180 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:20036711
(GRCh38)
14:20504870
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20036710:A:C
- Gene:
- OR4K13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1481211499 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:20035715
(GRCh38)
14:20503874
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20035714:G:T
- Gene:
- OR4K13 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1481067670 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 14:20034840
(GRCh38)
14:20502999
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20034839:T:A,NC_000014.9:20034839:T:C
- Gene:
- OR4K13 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
C=0.000684/2
(KOREAN)
C=0.001132/19
(TOMMO)
- HGVS:
17.
rs1479731011 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:20035171
(GRCh38)
14:20503330
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20035170:C:T
- Gene:
- OR4K13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
18.
rs1479521659 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:20034416
(GRCh38)
14:20502575
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20034415:G:T
- Gene:
- OR4K13 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
19.
rs1479466256 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 14:20034675
(GRCh38)
14:20502834
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20034674:G:A,NC_000014.9:20034674:G:T
- Gene:
- OR4K13 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00014/3
(
ALFA)
A=0.000008/2
(GnomAD_exomes)
- HGVS:
NC_000014.9:g.20034675G>A, NC_000014.9:g.20034675G>T, NW_025791796.1:g.237356G>A, NW_025791796.1:g.237356G>T, NC_000014.8:g.20502834G>A, NC_000014.8:g.20502834G>T, NM_001004714.2:c.84C>T, NM_001004714.2:c.84C>A, NM_001004714.1:c.84C>T, NM_001004714.1:c.84C>A, NM_001386029.1:c.84C>T, NM_001386029.1:c.84C>A, NP_001004714.1:p.Phe28Leu, NP_001372958.1:p.Phe28Leu
20.
rs1479048995 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:20034701
(GRCh38)
14:20502860
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20034700:A:G
- Gene:
- OR4K13 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS: