Links from Gene
Items: 1 to 20 of 956
1.
rs1484987309 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:7827158
(GRCh38)
11:7848705
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7827157:A:G
- Gene:
- OR5P3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000036/5
(GnomAD)
G=0.000038/10
(TOPMED)
- HGVS:
2.
rs1484976712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:7825888
(GRCh38)
11:7847435
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7825887:G:T
- Gene:
- OR5P3 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(GnomAD_exomes)
T=0.000036/5
(GnomAD)
- HGVS:
3.
rs1484488342 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:7827243
(GRCh38)
11:7848790
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7827242:C:T
- Gene:
- OR5P3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
4.
rs1484329667 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:7827906
(GRCh38)
11:7849453
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7827905:T:C
- Gene:
- OR5P3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
5.
rs1484065836 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:7827583
(GRCh38)
11:7849130
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7827582:T:C
- Gene:
- OR5P3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
6.
rs1483878677 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 11:7825527
(GRCh38)
11:7847074
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7825526:T:A,NC_000011.10:7825526:T:C
- Gene:
- OR5P3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000028/1
(
ALFA)
A=0.000008/2
(GnomAD_exomes)
A=0.000014/2
(GnomAD)
- HGVS:
NC_000011.10:g.7825527T>A, NC_000011.10:g.7825527T>C, NC_000011.9:g.7847074T>A, NC_000011.9:g.7847074T>C, NW_011332695.1:g.56517T>A, NW_011332695.1:g.56517T>C, NT_187583.1:g.46395T>A, NT_187583.1:g.46395T>C, NM_153445.2:c.446A>T, NM_153445.2:c.446A>G, NM_153445.1:c.446A>T, NM_153445.1:c.446A>G, NP_703146.1:p.Tyr149Phe, NP_703146.1:p.Tyr149Cys
7.
rs1483690110 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:7824646
(GRCh38)
11:7846193
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7824645:T:C
- Gene:
- OR5P3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1482466203 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:7827045
(GRCh38)
11:7848592
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7827044:G:T
- Gene:
- OR5P3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000064/9
(GnomAD)
T=0.000102/27
(TOPMED)
- HGVS:
10.
rs1477330972 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:7827383
(GRCh38)
11:7848930
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7827382:T:C
- Gene:
- OR5P3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1475678592 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 11:7824750
(GRCh38)
11:7846297
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7824749:A:C,NC_000011.10:7824749:A:G
- Gene:
- OR5P3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1475507663 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:7825543
(GRCh38)
11:7847090
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7825542:A:G
- Gene:
- OR5P3 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1474541767 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 11:7825812
(GRCh38)
11:7847359
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7825811:T:C,NC_000011.10:7825811:T:G
- Gene:
- OR5P3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000011.10:g.7825812T>C, NC_000011.10:g.7825812T>G, NC_000011.9:g.7847359T>C, NC_000011.9:g.7847359T>G, NW_011332695.1:g.56802T>C, NW_011332695.1:g.56802T>G, NT_187583.1:g.46680T>C, NT_187583.1:g.46680T>G, NM_153445.2:c.161A>G, NM_153445.2:c.161A>C, NM_153445.1:c.161A>G, NM_153445.1:c.161A>C, NP_703146.1:p.His54Arg, NP_703146.1:p.His54Pro
14.
rs1473991256 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:7826252
(GRCh38)
11:7847799
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7826251:T:G
- Gene:
- OR5P3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1473834218 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 11:7827700
(GRCh38)
11:7849247
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7827698:ACA:A
- Gene:
- OR5P3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.0002/1
(
ALFA)
-=0.0002/1
(Estonian)
- HGVS:
16.
rs1473653206 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:7827668
(GRCh38)
11:7849215
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7827667:C:T
- Gene:
- OR5P3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000106/2
(TOMMO)
- HGVS:
17.
rs1471607255 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTGGGAGTGGGAGTGCAGGTGGGA
[Show Flanks]
- Chromosome:
- 11:7825228
(GRCh38)
11:7846776
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7825228:GA:GAGTGGGAGTGGGAGTGCAGGTGGGA
- Gene:
- OR5P3 (Varview)
- Functional Consequence:
- inframe_insertion,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
GAGTGGGAGTGGGAGTGCAGGTGGGA=0./0
(
ALFA)
- HGVS:
18.
rs1469048398 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 11:7825864
(GRCh38)
11:7847411
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7825863:C:A,NC_000011.10:7825863:C:T
- Gene:
- OR5P3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
NC_000011.10:g.7825864C>A, NC_000011.10:g.7825864C>T, NC_000011.9:g.7847411C>A, NC_000011.9:g.7847411C>T, NW_011332695.1:g.56854C>A, NW_011332695.1:g.56854C>T, NT_187583.1:g.46732C>A, NT_187583.1:g.46732C>T, NM_153445.2:c.109G>T, NM_153445.2:c.109G>A, NM_153445.1:c.109G>T, NM_153445.1:c.109G>A, NP_703146.1:p.Val37Phe, NP_703146.1:p.Val37Ile
19.
rs1468839802 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:7825035
(GRCh38)
11:7846582
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7825034:C:T
- Gene:
- OR5P3 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
20.
rs1468800284 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:7826024
(GRCh38)
11:7847571
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7826023:G:T
- Gene:
- OR5P3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS: