Links from Gene
Items: 1 to 20 of 908
1.
rs1489388293 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 11:6197706
(GRCh38)
11:6218936
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6197705:T:
- Gene:
- OR52W1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
2.
rs1484481299 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:6197975
(GRCh38)
11:6219205
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6197974:C:G
- Gene:
- OR52W1 (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:
3.
rs1484120797 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 11:6198302
(GRCh38)
11:6219532
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6198299:CTCT:CT
- Gene:
- OR52W1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
4.
rs1484098808 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:6197381
(GRCh38)
11:6218611
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6197380:G:T
- Gene:
- OR52W1 (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:
6.
rs1482537634 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 11:6197928
(GRCh38)
11:6219158
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6197927:T:C,NC_000011.10:6197927:T:G
- Gene:
- OR52W1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
7.
rs1480112478 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:6199684
(GRCh38)
11:6220914
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6199683:C:T
- Gene:
- OR52W1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
8.
rs1479846629 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:6199991
(GRCh38)
11:6221221
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6199990:C:T
- Gene:
- OR52W1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
9.
rs1478391705 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:6199674
(GRCh38)
11:6220904
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6199673:T:C
- Gene:
- OR52W1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
10.
rs1478103367 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:6200004
(GRCh38)
11:6221234
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6200003:C:T
- Gene:
- OR52W1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1475387787 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 11:6198276
(GRCh38)
11:6219506
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6198275:T:A,NC_000011.10:6198275:T:C
- Gene:
- OR52W1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0./0
(GnomAD)
- HGVS:
12.
rs1474277671 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:6199276
(GRCh38)
11:6220506
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6199275:T:C
- Gene:
- OR52W1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1473861390 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:6199098
(GRCh38)
11:6220328
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6199097:C:A
- Gene:
- OR52W1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
14.
rs1473848018 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 11:6197463
(GRCh38)
11:6218693
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6197462:T:
- Gene:
- OR52W1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
15.
rs1473212227 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:6198467
(GRCh38)
11:6219697
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6198466:C:T
- Gene:
- OR52W1 (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)
- HGVS:
16.
rs1472844751 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:6197894
(GRCh38)
11:6219124
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6197893:A:T
- Gene:
- OR52W1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
17.
rs1472621311 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:6198871
(GRCh38)
11:6220101
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6198870:A:G
- Gene:
- OR52W1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1472079065 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 11:6197599
(GRCh38)
11:6218829
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6197598:T:
- Gene:
- OR52W1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000054/1
(
ALFA)
-=0.000072/19
(TOPMED)
-=0.000078/11
(GnomAD)
-=0.000223/1
(Estonian)
- HGVS:
19.
rs1471348026 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 11:6197286
(GRCh38)
11:6218517
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6197286:TTTTTTT:TTTTTTTT
- Gene:
- OR52W1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
T=0.000083/22
(TOPMED)
T=0.000086/12
(GnomAD)
T=0.000156/1
(1000Genomes)
- HGVS:
20.
rs1467430465 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:6197850
(GRCh38)
11:6219080
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6197849:G:A
- Gene:
- OR52W1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS: