Links from Gene
Items: 1 to 20 of 918
1.
rs1490735292 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:6002910
(GRCh38)
11:6024140
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6002909:T:C
- Gene:
- OR56A4 (Varview), OR56A3 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
2.
rs1487952128 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 11:6005075
(GRCh38)
11:6026305
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6005074:A:G,NC_000011.10:6005074:A:T
- Gene:
- OR56A4 (Varview), OR56A3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000026/7
(TOPMED)
T=0.000035/1
(TOMMO)
G=0.000064/9
(GnomAD)
G=0.000312/2
(1000Genomes)
- HGVS:
4.
rs1486739706 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 11:6003733
(GRCh38)
11:6024963
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6003729:ACACA:ACA
- Gene:
- OR56A4 (Varview), OR56A3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ACA=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
5.
rs1486687737 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:6004837
(GRCh38)
11:6026067
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6004836:A:G
- Gene:
- OR56A4 (Varview), OR56A3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
6.
rs1486119908 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:6004141
(GRCh38)
11:6025371
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6004140:C:G
- Gene:
- OR56A4 (Varview), OR56A3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
7.
rs1485368132 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:6003066
(GRCh38)
11:6024296
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6003065:T:C
- Gene:
- OR56A4 (Varview), OR56A3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_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:
9.
rs1484150123 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:6004017
(GRCh38)
11:6025247
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6004016:A:G
- Gene:
- OR56A4 (Varview), OR56A3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
10.
rs1483584688 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 11:6003036
(GRCh38)
11:6024266
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6003035:C:A,NC_000011.10:6003035:C:T
- Gene:
- OR56A4 (Varview), OR56A3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
11.
rs1482845034 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:6002655
(GRCh38)
11:6023885
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6002654:A:G
- Gene:
- OR56A4 (Varview), OR56A3 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1482516477 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 11:6004533
(GRCh38)
11:6025763
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6004532:G:A,NC_000011.10:6004532:G:T
- Gene:
- OR56A4 (Varview), OR56A3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
- HGVS:
15.
rs1480923150 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:6003099
(GRCh38)
11:6024329
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6003098:C:T
- Gene:
- OR56A4 (Varview), OR56A3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_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.
rs1480872389 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:6002501
(GRCh38)
11:6023731
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6002500:C:T
- Gene:
- OR56A4 (Varview), OR56A3 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
17.
rs1480726063 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:6002163
(GRCh38)
11:6023393
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6002162:A:T
- Gene:
- OR56A4 (Varview), OR56A3 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1480576369 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 11:6002631
(GRCh38)
11:6023861
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6002630:A:G,NC_000011.10:6002630:A:T
- Gene:
- OR56A4 (Varview), OR56A3 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000011.10:g.6002631A>G, NC_000011.10:g.6002631A>T, NC_000011.9:g.6023861A>G, NC_000011.9:g.6023861A>T, NM_001005179.4:c.362T>C, NM_001005179.4:c.362T>A, NM_001005179.3:c.362T>C, NM_001005179.3:c.362T>A, NM_001005179.2:c.518T>C, NM_001005179.2:c.518T>A, NP_001005179.3:p.Met121Thr, NP_001005179.3:p.Met121Lys
19.
rs1478169169 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 11:6002685
(GRCh38)
11:6023915
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6002684:T:A,NC_000011.10:6002684:T:C
- Gene:
- OR56A4 (Varview), OR56A3 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
NC_000011.10:g.6002685T>A, NC_000011.10:g.6002685T>C, NC_000011.9:g.6023915T>A, NC_000011.9:g.6023915T>C, NM_001005179.4:c.308A>T, NM_001005179.4:c.308A>G, NM_001005179.3:c.308A>T, NM_001005179.3:c.308A>G, NM_001005179.2:c.464A>T, NM_001005179.2:c.464A>G, NP_001005179.3:p.Gln103Leu, NP_001005179.3:p.Gln103Arg
20.
rs1477159073 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:6003464
(GRCh38)
11:6024694
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6003463:G:T
- Gene:
- OR56A4 (Varview), OR56A3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
T=0.000071/1
(TOMMO)
- HGVS: