Links from Gene
Items: 1 to 20 of 882
1.
rs1490267676 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:58359559
(GRCh38)
11:58127032
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58359558:G:C
- Gene:
- OR5B17 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
2.
rs1488911296 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:58358489
(GRCh38)
11:58125962
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58358488:T:C
- Gene:
- OR5B17 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000224/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
3.
rs1488140742 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:58360002
(GRCh38)
11:58127475
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58360001:T:G
- Gene:
- OR5B17 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
4.
rs1487454841 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:58360660
(GRCh38)
11:58128133
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58360659:C:A
- Gene:
- OR5B17 (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:
5.
rs1487159585 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:58359372
(GRCh38)
11:58126845
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58359371:G:A
- Gene:
- OR5B17 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
6.
rs1486699003 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:58360471
(GRCh38)
11:58127944
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58360470:C:T
- Gene:
- OR5B17 (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=0.000035/1
(TOMMO)
- HGVS:
7.
rs1483463634 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 11:58360361
(GRCh38)
11:58127834
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58360360:C:A,NC_000011.10:58360360:C:T
- Gene:
- OR5B17 (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)
A=0.000342/1
(KOREAN)
- HGVS:
9.
rs1483100665 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:58358374
(GRCh38)
11:58125847
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58358373:G:A
- Gene:
- OR5B17 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1482745222 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:58358721
(GRCh38)
11:58126194
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58358720:C:T
- Gene:
- OR5B17 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1480938083 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 11:58360244
(GRCh38)
11:58127717
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58360241:TTTT:TT
- Gene:
- OR5B17 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTT=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
12.
rs1478678200 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:58358041
(GRCh38)
11:58125514
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58358040:A:G
- Gene:
- OR5B17 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
13.
rs1477862435 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:58360837
(GRCh38)
11:58128310
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58360836:T:C
- Gene:
- OR5B17 (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.
rs1477705755 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:58360103
(GRCh38)
11:58127576
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58360102:A:G
- Gene:
- OR5B17 (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)
G=0.000008/2
(TOPMED)
G=0.000071/2
(TOMMO)
- HGVS:
15.
rs1476707617 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:58358178
(GRCh38)
11:58125651
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58358177:C:T
- Gene:
- OR5B17 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1476568802 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:58359248
(GRCh38)
11:58126721
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58359247:G:A
- Gene:
- OR5B17 (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:
17.
rs1476128665 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:58358468
(GRCh38)
11:58125941
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58358467:G:A
- Gene:
- OR5B17 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000028/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1475639309 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 11:58359626
(GRCh38)
11:58127099
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58359625:GGG:GG
- Gene:
- OR5B17 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
19.
rs1473635827 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:58357771
(GRCh38)
11:58125244
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58357770:C:T
- Gene:
- OR5B17 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
20.
rs1472815914 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:58357627
(GRCh38)
11:58125100
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58357626:C:T
- Gene:
- OR5B17 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS: