Links from Gene
Items: 1 to 20 of 986
1.
rs1489486195 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 11:5324565
(GRCh38)
11:5345795
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5324564:C:
- Gene:
- OR51B2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000094/1
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
2.
rs1489196709 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 11:5323893
(GRCh38)
11:5345123
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5323892:G:A,NC_000011.10:5323892:G:T
- Gene:
- OR51B2 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
3.
rs1488946499 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:5323111
(GRCh38)
11:5344341
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5323110:A:G
- Gene:
- OR51B2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
5.
rs1486667943 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:5325730
(GRCh38)
11:5346960
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5325729:G:T
- Gene:
- OR51B2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
7.
rs1484579686 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 11:5325501
(GRCh38)
11:5346731
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5325500:T:A,NC_000011.10:5325500:T:C
- Gene:
- OR51B2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000156/1
(1000Genomes)
- HGVS:
8.
rs1482632764 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:5324524
(GRCh38)
11:5345754
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5324523:T:G
- Gene:
- OR51B2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000108/2
(
ALFA)
G=0.000078/11
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
9.
rs1482415674 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:5324876
(GRCh38)
11:5346106
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5324875:G:A
- Gene:
- OR51B2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1481758249 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:5326083
(GRCh38)
11:5347313
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5326082:C:T
- Gene:
- OR51B2 (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:
11.
rs1479355341 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:5326329
(GRCh38)
11:5347559
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5326328:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000224/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
12.
rs1478529744 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 11:5323851
(GRCh38)
11:5345081
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5323850:C:A,NC_000011.10:5323850:C:G
- Gene:
- OR51B2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1478205799 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:5324121
(GRCh38)
11:5345351
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5324120:G:A
- Gene:
- OR51B2 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(GnomAD_exomes)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
14.
rs1477690416 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:5323101
(GRCh38)
11:5344331
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5323100:T:G
- Gene:
- OR51B2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1477488410 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:5325518
(GRCh38)
11:5346748
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5325517:T:C
- Gene:
- OR51B2 (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=0.000008/2
(TOPMED)
C=0.000177/3
(TOMMO)
C=0.000546/1
(Korea1K)
C=0.000684/2
(KOREAN)
- HGVS:
16.
rs1476372782 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:5324870
(GRCh38)
11:5346100
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5324869:A:G
- Gene:
- OR51B2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_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:
17.
rs1474855785 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:5323447
(GRCh38)
11:5344677
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5323446:A:G
- Gene:
- OR51B2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
18.
rs1474092031 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:5324048
(GRCh38)
11:5345278
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5324047:A:G
- Gene:
- OR51B2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
19.
rs1474027451 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:5322897
(GRCh38)
11:5344127
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5322896:G:A
- Gene:
- OR51B2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1473961205 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:5323412
(GRCh38)
11:5344642
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5323411:G:C
- Gene:
- OR51B2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000008/2
(GnomAD_exomes)
- HGVS: