Links from Gene
Items: 1 to 20 of 983
2.
rs1488875771 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:20117132
(GRCh38)
14:20585291
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20117131:C:G
- Gene:
- OR4K17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
3.
rs1487817441 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GACACACACACA>-
[Show Flanks]
- Chromosome:
- 14:20116353
(GRCh38)
14:20584512
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20116343:ACACACACAGACACACACACA:ACACACACA
- Gene:
- OR4K17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ACACACACA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
4.
rs1487794741 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:20115639
(GRCh38)
14:20583798
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20115638:G:A
- Gene:
- OR4K17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
6.
rs1486906489 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:20118009
(GRCh38)
14:20586168
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20118008:T:C
- Gene:
- OR4K17 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
7.
rs1484649409 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:20118617
(GRCh38)
14:20586776
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20118616:A:C
- Gene:
- OR4K17 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
8.
rs1482329397 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 14:20118859
(GRCh38)
14:20587018
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20118858:T:A
- Gene:
- OR4K17 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
9.
rs1481337186 has merged into rs925438574 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-,CACA
[Show Flanks]
- Chromosome:
- 14:20116363
(GRCh38)
14:20584522
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20116353:ACACACACACA:ACACACACA,NC_000014.9:20116353:ACACACACACA:ACACACACACACA
- Gene:
- OR4K17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACA=0./0
(
ALFA)
- HGVS:
10.
rs1478857002 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 14:20118751
(GRCh38)
14:20586910
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20118750:A:C,NC_000014.9:20118750:A:G
- Gene:
- OR4K17 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000014.9:g.20118751A>C, NC_000014.9:g.20118751A>G, NW_025791796.1:g.321432A>C, NW_025791796.1:g.321432A>G, NC_000014.8:g.20586910A>C, NC_000014.8:g.20586910A>G, NM_001004715.5:c.*313A>C, NM_001004715.5:c.*313A>G, NM_001004715.4:c.*313A>C, NM_001004715.4:c.*313A>G, NM_001004715.3:c.*313A>C, NM_001004715.3:c.*313A>G
11.
rs1478830699 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:20116640
(GRCh38)
14:20584799
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20116639:A:G
- Gene:
- OR4K17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1478632743 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:20116219
(GRCh38)
14:20584378
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20116218:T:C
- Gene:
- OR4K17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
13.
rs1476995323 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAT>-
[Show Flanks]
- Chromosome:
- 14:20115625
(GRCh38)
14:20583784
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20115622:ATGAT:AT
- Gene:
- OR4K17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
14.
rs1476886377 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:20116920
(GRCh38)
14:20585079
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20116919:C:T
- Gene:
- OR4K17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
15.
rs1474785145 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:20118278
(GRCh38)
14:20586437
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20118277:G:C
- Gene:
- OR4K17 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1474437774 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:20118422
(GRCh38)
14:20586581
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20118421:C:T
- Gene:
- OR4K17 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
17.
rs1474357294 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:20117742
(GRCh38)
14:20585901
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20117741:G:A
- Gene:
- OR4K17 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1472799461 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:20117151
(GRCh38)
14:20585310
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20117150:C:A
- Gene:
- OR4K17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1470334618 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:20118840
(GRCh38)
14:20586999
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20118839:T:G
- Gene:
- OR4K17 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: