Links from Gene
Items: 1 to 20 of 1351
1.
rs1489063936 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 11:55572950
(GRCh38)
11:55340426
(GRCh37)
- Canonical SPDI:
- NC_000011.10:55572949:G:A,NC_000011.10:55572949:G:C,NC_000011.10:55572949:G:T
- Gene:
- OR4C16 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000011.10:g.55572950G>A, NC_000011.10:g.55572950G>C, NC_000011.10:g.55572950G>T, NC_000011.9:g.55340426G>A, NC_000011.9:g.55340426G>C, NC_000011.9:g.55340426G>T, NM_001004701.2:c.823G>A, NM_001004701.2:c.823G>C, NM_001004701.2:c.823G>T, NP_001004701.2:p.Val275Ile, NP_001004701.2:p.Val275Leu, NP_001004701.2:p.Val275Phe
2.
rs1488574008 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:55570851
(GRCh38)
11:55338327
(GRCh37)
- Canonical SPDI:
- NC_000011.10:55570850:A:G
- Gene:
- OR4C16 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
3.
rs1487791984 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:55570151
(GRCh38)
11:55337627
(GRCh37)
- Canonical SPDI:
- NC_000011.10:55570150:G:A
- Gene:
- OR4C16 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
4.
rs1487589225 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:55570592
(GRCh38)
11:55338068
(GRCh37)
- Canonical SPDI:
- NC_000011.10:55570591:C:T
- Gene:
- OR4C16 (Varview)
- Functional Consequence:
- 2KB_upstream_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)
T=0.000156/1
(1000Genomes)
T=0.001345/23
(TOMMO)
- HGVS:
6.
rs1485978703 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:55572001
(GRCh38)
11:55339477
(GRCh37)
- Canonical SPDI:
- NC_000011.10:55572000:C:G
- Gene:
- OR4C16 (Varview)
- Functional Consequence:
- 2KB_upstream_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:
7.
rs1485378336 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 11:55572058
(GRCh38)
11:55339534
(GRCh37)
- Canonical SPDI:
- NC_000011.10:55572057:T:A
- Gene:
- OR4C16 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1484637610 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 11:55572603
(GRCh38)
11:55340079
(GRCh37)
- Canonical SPDI:
- NC_000011.10:55572602:T:A
- Gene:
- OR4C16 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
- HGVS:
9.
rs1484427006 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:55571941
(GRCh38)
11:55339417
(GRCh37)
- Canonical SPDI:
- NC_000011.10:55571940:C:A
- Gene:
- OR4C16 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_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.
rs1484401196 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 11:55572823
(GRCh38)
11:55340299
(GRCh37)
- Canonical SPDI:
- NC_000011.10:55572822:G:A,NC_000011.10:55572822:G:T
- Gene:
- OR4C16 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0./0
(KOREAN)
T=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1484238344 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:55570652
(GRCh38)
11:55338128
(GRCh37)
- Canonical SPDI:
- NC_000011.10:55570651:C:T
- Gene:
- OR4C16 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
12.
rs1482959804 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:55572871
(GRCh38)
11:55340347
(GRCh37)
- Canonical SPDI:
- NC_000011.10:55572870:C:T
- Gene:
- OR4C16 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1481960160 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:55570454
(GRCh38)
11:55337930
(GRCh37)
- Canonical SPDI:
- NC_000011.10:55570453:T:C
- Gene:
- OR4C16 (Varview)
- Functional Consequence:
- 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=0.000007/1
(GnomAD)
- HGVS:
14.
rs1481913588 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:55571566
(GRCh38)
11:55339042
(GRCh37)
- Canonical SPDI:
- NC_000011.10:55571565:A:G
- Gene:
- OR4C16 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000029/4
(GnomAD)
G=0.000034/9
(TOPMED)
G=0.000156/1
(1000Genomes)
- HGVS:
15.
rs1480962754 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:55570129
(GRCh38)
11:55337605
(GRCh37)
- Canonical SPDI:
- NC_000011.10:55570128:G:A
- Gene:
- OR4C16 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1480215324 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 11:55573334
(GRCh38)
11:55340810
(GRCh37)
- Canonical SPDI:
- NC_000011.10:55573333:T:A,NC_000011.10:55573333:T:G
- Gene:
- OR4C16 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.5/1
(SGDP_PRJ)
- HGVS:
17.
rs1479643796 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:55572097
(GRCh38)
11:55339573
(GRCh37)
- Canonical SPDI:
- NC_000011.10:55572096:C:A
- Gene:
- OR4C16 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
18.
rs1479551598 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:55571385
(GRCh38)
11:55338861
(GRCh37)
- Canonical SPDI:
- NC_000011.10:55571384:G:T
- Gene:
- OR4C16 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1478577816 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 11:55571737
(GRCh38)
11:55339213
(GRCh37)
- Canonical SPDI:
- NC_000011.10:55571736:A:C,NC_000011.10:55571736:A:T
- Gene:
- OR4C16 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
C=0.000156/1
(1000Genomes)
A=0.5/1
(SGDP_PRJ)
- HGVS: