Links from Gene
Items: 1 to 20 of 848
1.
rs1490446219 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:55426594
(GRCh38)
12:55820378
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55426593:C:T
- Gene:
- OR6C76 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000031/1
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
2.
rs1489124386 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:55425442
(GRCh38)
12:55819226
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55425441:G:A
- Gene:
- OR6C76 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
3.
rs1488701429 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:55426505
(GRCh38)
12:55820289
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55426504:A:G
- Gene:
- OR6C76 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
4.
rs1488138568 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 12:55426904
(GRCh38)
12:55820688
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55426903:C:G,NC_000012.12:55426903:C:T
- Gene:
- OR6C76 (Varview)
- Functional Consequence:
- coding_sequence_variant,stop_gained,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1488115558 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:55426836
(GRCh38)
12:55820620
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55426835:A:G
- Gene:
- OR6C76 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
6.
rs1487572271 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:55427172
(GRCh38)
12:55820956
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55427171:C:A
- Gene:
- OR6C76 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000307/5
(
ALFA)
A=0.000059/9
(GnomAD_exomes)
- HGVS:
8.
rs1486808164 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:55426526
(GRCh38)
12:55820310
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55426525:T:C
- Gene:
- OR6C76 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1485588452 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:55424527
(GRCh38)
12:55818311
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55424526:C:T
- Gene:
- OR6C76 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
11.
rs1481776375 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:55426156
(GRCh38)
12:55819940
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55426155:A:C
- Gene:
- OR6C76 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
13.
rs1478119925 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:55425282
(GRCh38)
12:55819066
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55425281:T:C
- Gene:
- OR6C76 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1477297079 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:55427304
(GRCh38)
12:55821088
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55427303:C:A
- Gene:
- OR6C76 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1476104431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:55425410
(GRCh38)
12:55819194
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55425409:A:G
- Gene:
- OR6C76 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
16.
rs1475390636 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 12:55424812
(GRCh38)
12:55818596
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55424811:C:G,NC_000012.12:55424811:C:T
- Gene:
- OR6C76 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000054/1
(
ALFA)
G=0.000015/4
(TOPMED)
T=0.000071/1
(TOMMO)
- HGVS:
17.
rs1475176266 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 12:55424661
(GRCh38)
12:55818445
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55424660:T:C,NC_000012.12:55424660:T:G
- Gene:
- OR6C76 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1475075183 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:55425839
(GRCh38)
12:55819623
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55425838:A:C
- Gene:
- OR6C76 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
19.
rs1474778366 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:55425117
(GRCh38)
12:55818901
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55425116:C:T
- Gene:
- OR6C76 (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.
rs1470646712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:55424271
(GRCh38)
12:55818055
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55424270:T:C
- Gene:
- OR6C76 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: