Links from Gene
Items: 1 to 20 of 936
1.
rs1491441097 has merged into rs112704008 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 12:55220526
(GRCh38)
12:55614310
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55220510:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000012.12:55220510:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000012.12:55220510:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000012.12:55220510:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:55220510:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:55220510:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- OR10A7 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGT=0./0
(
ALFA)
TG=0.04667/28
(NorthernSweden)
TG=0.05/2
(GENOME_DK)
TG=0.08427/422
(1000Genomes)
TG=0.09767/21
(Vietnamese)
- HGVS:
NC_000012.12:g.55220512GT[7], NC_000012.12:g.55220512GT[8], NC_000012.12:g.55220512GT[9], NC_000012.12:g.55220512GT[11], NC_000012.12:g.55220512GT[12], NC_000012.12:g.55220512GT[13], NC_000012.11:g.55614296GT[7], NC_000012.11:g.55614296GT[8], NC_000012.11:g.55614296GT[9], NC_000012.11:g.55614296GT[11], NC_000012.11:g.55614296GT[12], NC_000012.11:g.55614296GT[13]
2.
rs1489866996 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 12:55219123
(GRCh38)
12:55612907
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55219122:G:A,NC_000012.12:55219122:G:T
- Gene:
- OR10A7 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
3.
rs1489055903 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:55221480
(GRCh38)
12:55615264
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55221479:T:C
- Gene:
- OR10A7 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_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.
rs1488668117 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:55221375
(GRCh38)
12:55615159
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55221374:G:A
- Gene:
- OR10A7 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.0003/1
(KOREAN)
- HGVS:
5.
rs1487143819 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:55220577
(GRCh38)
12:55614361
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55220576:A:G
- Gene:
- OR10A7 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1486255574 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:55221594
(GRCh38)
12:55615378
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55221593:G:A,NC_000012.12:55221593:G:C
- Gene:
- OR10A7 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
7.
rs1484465841 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:55220599
(GRCh38)
12:55614383
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55220598:G:A
- Gene:
- OR10A7 (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=0.000156/1
(1000Genomes)
- HGVS:
8.
rs1483983213 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:55220610
(GRCh38)
12:55614394
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55220609:A:T
- Gene:
- OR10A7 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1483281192 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:55221777
(GRCh38)
12:55615561
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55221776:C:T
- Gene:
- OR10A7 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000051/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000008/2
(GnomAD_exomes)
- HGVS:
10.
rs1482632615 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:55221254
(GRCh38)
12:55615038
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55221253:T:C
- Gene:
- OR10A7 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1482564173 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:55219555
(GRCh38)
12:55613339
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55219554:C:T
- Gene:
- OR10A7 (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=0.000007/1
(GnomAD)
- HGVS:
12.
rs1482507768 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:55219571
(GRCh38)
12:55613355
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55219570:T:C
- Gene:
- OR10A7 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
13.
rs1480149861 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:55221659
(GRCh38)
12:55615443
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55221658:G:A
- Gene:
- OR10A7 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
14.
rs1479538248 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:55221465
(GRCh38)
12:55615249
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55221464:C:T
- Gene:
- OR10A7 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
16.
rs1475487038 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:55219229
(GRCh38)
12:55613013
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55219228:A:G
- Gene:
- OR10A7 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
17.
rs1474503802 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:55219660
(GRCh38)
12:55613444
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55219659:A:G
- Gene:
- OR10A7 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
18.
rs1473933243 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:55222239
(GRCh38)
12:55616023
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55222238:G:A
- Gene:
- OR10A7 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
19.
rs1473910921 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 12:55220713
(GRCh38)
12:55614497
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55220712:T:A,NC_000012.12:55220712:T:C
- Gene:
- OR10A7 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1473786162 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:55221523
(GRCh38)
12:55615307
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55221522:C:T
- Gene:
- OR10A7 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000008/2
(TOPMED)
T=0.000022/3
(GnomAD)
- HGVS: