Links from Gene
Items: 1 to 20 of 889
1.
rs1490345178 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:5735238
(GRCh38)
11:5756468
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5735237:C:T
- Gene:
- OR56B1 (Varview), OR52N4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
2.
rs1488606426 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:5737665
(GRCh38)
11:5758895
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5737664:A:G
- Gene:
- OR56B1 (Varview), OR52N4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
3.
rs1487772317 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:5736163
(GRCh38)
11:5757393
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5736162:T:C
- Gene:
- OR56B1 (Varview), OR52N4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
4.
rs1487283445 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:5737091
(GRCh38)
11:5758321
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5737090:G:T
- Gene:
- OR56B1 (Varview), OR52N4 (Varview)
- Functional Consequence:
- missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
5.
rs1487026903 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:5736587
(GRCh38)
11:5757817
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5736586:T:C
- Gene:
- OR56B1 (Varview), OR52N4 (Varview)
- Functional Consequence:
- missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
8.
rs1481961042 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:5736637
(GRCh38)
11:5757867
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5736636:G:C
- Gene:
- OR56B1 (Varview), OR52N4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1481677723 has merged into rs1178234504 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 11:5735058
(GRCh38)
11:5756288
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5735057:TTTTTTT:TTTTTT,NC_000011.10:5735057:TTTTTTT:TTTTTTTT
- Gene:
- OR56B1 (Varview), OR52N4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0.00005/1
(
ALFA)
-=0.00022/1
(Estonian)
-=0.00328/6
(Korea1K)
-=0.00464/78
(TOMMO)
-=0.00467/1
(Vietnamese)
- HGVS:
10.
rs1481440580 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:5736058
(GRCh38)
11:5757288
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5736057:T:C
- Gene:
- OR56B1 (Varview), OR52N4 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
11.
rs1481263876 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:5737131
(GRCh38)
11:5758361
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5737130:C:G
- Gene:
- OR56B1 (Varview), OR52N4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1480014834 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:5737157
(GRCh38)
11:5758387
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5737156:T:C
- Gene:
- OR56B1 (Varview), OR52N4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000004/1
(GnomAD_exomes)
C=0.000035/1
(TOMMO)
- HGVS:
13.
rs1479150907 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:5734943
(GRCh38)
11:5756173
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5734942:T:G
- Gene:
- OR56B1 (Varview), OR52N4 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1478684004 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:5734657
(GRCh38)
11:5755887
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5734656:A:C
- Gene:
- OR56B1 (Varview), OR52N4 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
15.
rs1476706521 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:5736943
(GRCh38)
11:5758173
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5736942:T:C
- Gene:
- OR56B1 (Varview), OR52N4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1476018583 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:5735840
(GRCh38)
11:5757070
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5735839:G:A
- Gene:
- OR56B1 (Varview), OR52N4 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
17.
rs1475964907 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:5735999
(GRCh38)
11:5757229
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5735998:C:T
- Gene:
- OR56B1 (Varview), OR52N4 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1475594492 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:5735325
(GRCh38)
11:5756555
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5735324:C:T
- Gene:
- OR56B1 (Varview), OR52N4 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_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:
19.
rs1474788817 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:5736859
(GRCh38)
11:5758089
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5736858:T:C
- Gene:
- OR56B1 (Varview), OR52N4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000008/2
(GnomAD_exomes)
- HGVS:
20.
rs1473632000 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:5736396
(GRCh38)
11:5757626
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5736395:A:G
- Gene:
- OR56B1 (Varview), OR52N4 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_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)
- HGVS: