Links from Gene
Items: 1 to 20 of 420
3.
rs1487199396 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:248489089
(GRCh38)
1:248652390
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248489088:C:G,NC_000001.11:248489088:C:T
- Gene:
- OR2T5 (Varview), LOC105373277 (Varview)
- Functional Consequence:
- intron_variant,synonymous_variant,coding_sequence_variant
- HGVS:
NC_000001.11:g.248489089C>G, NC_000001.11:g.248489089C>T, NC_000001.10:g.248652390C>G, NC_000001.10:g.248652390C>T, NW_025791755.1:g.200911G>C, NW_025791755.1:g.200911G>A, NT_187518.1:g.143129C>G, NT_187518.1:g.143129C>T, NT_187646.1:g.139507C>G, NT_187646.1:g.139507C>T, NM_001004697.2:c.501C>G, NM_001004697.2:c.501C>T, NM_001004697.1:c.501C>G, NM_001004697.1:c.501C>T
6.
rs1481382180 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:248488497
(GRCh38)
1:248651798
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248488496:A:T
- Gene:
- OR2T5 (Varview), LOC105373277 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000009/1
(GnomAD)
T=0.000036/1
(TOMMO)
- HGVS:
7.
rs1481331676 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:248487823
(GRCh38)
1:248651124
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248487822:A:G
- Gene:
- OR2T5 (Varview), LOC105373277 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
8.
rs1477207744 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATCT>-
[Show Flanks]
- Chromosome:
- 1:248488911
(GRCh38)
1:248652212
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248488907:TCTATCT:TCT
- Gene:
- OR2T5 (Varview), LOC105373277 (Varview)
- Functional Consequence:
- stop_gained,intron_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
-=0.00002/2
(GnomAD_exomes)
- HGVS:
9.
rs1477012636 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:248487627
(GRCh38)
1:248650928
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248487626:G:A
- Gene:
- OR2T5 (Varview), LOC105373277 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000019/2
(GnomAD)
- HGVS:
11.
rs1475501467 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:248488823
(GRCh38)
1:248652124
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248488822:T:G
- Gene:
- OR2T5 (Varview), LOC105373277 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency
- MAF:
G=0.000005/1
(GnomAD_exomes)
- HGVS:
12.
rs1472677654 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTGT>-
[Show Flanks]
- Chromosome:
- 1:248488275
(GRCh38)
1:248651576
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248488271:TGTTTGT:TGT
- Gene:
- OR2T5 (Varview), LOC105373277 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGT=0.00043/7
(
ALFA)
-=0.00011/2
(TOMMO)
-=0.00017/6
(GnomAD)
- HGVS:
13.
rs1472341222 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:248488606
(GRCh38)
1:248651907
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248488605:G:C
- Gene:
- OR2T5 (Varview), LOC105373277 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD_exomes)
- HGVS:
15.
rs1470598963 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:248488632
(GRCh38)
1:248651933
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248488631:A:T
- Gene:
- OR2T5 (Varview), LOC105373277 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1470258019 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GTACTGAATCTGGAGA>-
[Show Flanks]
- Chromosome:
- 1:248487656
(GRCh38)
1:248650957
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248487655:GTACTGAATCTGGAGA:
- Gene:
- OR2T5 (Varview), LOC105373277 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000084/1
(
ALFA)
-=0.000009/1
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
19.
rs1466447907 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 1:248488592
(GRCh38)
1:248651894
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248488592:CC:CCC
- Gene:
- OR2T5 (Varview), LOC105373277 (Varview)
- Functional Consequence:
- coding_sequence_variant,frameshift_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CCC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1465447729 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:248487508
(GRCh38)
1:248650809
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248487507:T:C
- Gene:
- OR2T5 (Varview), LOC105373277 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.00008/1
(
ALFA)
C=0.00006/4
(GnomAD)
- HGVS: