Links from Gene
Items: 1 to 20 of 945
1.
rs1490304002 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- 3:98497628
(GRCh38)
3:98216472
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98497627:A:C,NC_000003.12:98497627:A:G,NC_000003.12:98497627:A:T
- Gene:
- OR5K2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
2.
rs1488235202 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:98495969
(GRCh38)
3:98214813
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98495968:T:C
- Gene:
- OR5K2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
3.
rs1487079173 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGTACAGAAA
[Show Flanks]
- Chromosome:
- 3:98496092
(GRCh38)
3:98214937
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98496092:AAAGGTACAGAAA:AAAGGTACAGAAAGGTACAGAAA
- Gene:
- OR5K2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAGGTACAGAAAGGTACAGAAA=0./0
(
ALFA)
AAAGGTACAG=0.000008/2
(TOPMED)
AAAGGTACAG=0.000014/2
(GnomAD)
- HGVS:
4.
rs1486878579 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:98495836
(GRCh38)
3:98214680
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98495835:T:C
- Gene:
- OR5K2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000895/4
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000893/4
(Estonian)
- HGVS:
5.
rs1485742660 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 3:98497275
(GRCh38)
3:98216119
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98497274:A:C
- Gene:
- OR5K2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
6.
rs1485629263 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 3:98498676
(GRCh38)
3:98217520
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98498675:T:
- Gene:
- OR5K2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000008/1
(GnomAD_exomes)
-=0.000019/5
(TOPMED)
-=0.000043/6
(GnomAD)
- HGVS:
7.
rs1483332339 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:98497958
(GRCh38)
3:98216802
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98497957:C:T
- Gene:
- OR5K2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
8.
rs1482754021 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 3:98498742
(GRCh38)
3:98217586
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98498741:A:T
- Gene:
- OR5K2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
9.
rs1482290245 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 3:98498512
(GRCh38)
3:98217356
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98498511:TTT:TT
- Gene:
- OR5K2 (Varview)
- Functional Consequence:
- coding_sequence_variant,frameshift_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
10.
rs1480887308 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:98496076
(GRCh38)
3:98214920
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98496075:G:C
- Gene:
- OR5K2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
11.
rs1480857987 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 3:98496914
(GRCh38)
3:98215758
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98496913:T:G
- Gene:
- OR5K2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
12.
rs1479480308 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 3:98496782
(GRCh38)
3:98215626
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98496781:A:C
- Gene:
- OR5K2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
C=0.000014/2
(GnomAD)
- HGVS:
13.
rs1479230132 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:98497334
(GRCh38)
3:98216178
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98497333:A:G
- Gene:
- OR5K2 (Varview)
- Functional Consequence:
- 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:
14.
rs1478605459 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 3:98498763
(GRCh38)
3:98217607
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98498762:G:A,NC_000003.12:98498762:G:C
- Gene:
- OR5K2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000038/10
(TOPMED)
- HGVS:
15.
rs1478291140 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:98498357
(GRCh38)
3:98217201
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98498356:T:C
- Gene:
- OR5K2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1477014751 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 3:98497877
(GRCh38)
3:98216721
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98497876:T:G
- Gene:
- OR5K2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1476945777 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 3:98498260
(GRCh38)
3:98217104
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98498259:A:T
- Gene:
- OR5K2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1475744723 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:98498523
(GRCh38)
3:98217367
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98498522:A:G
- Gene:
- OR5K2 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1475623259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 3:98496245
(GRCh38)
3:98215089
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98496244:T:G
- Gene:
- OR5K2 (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=0.000014/2
(GnomAD)
- HGVS:
20.
rs1474705375 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:98496393
(GRCh38)
3:98215237
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98496392:A:G
- Gene:
- OR5K2 (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=0.000029/4
(GnomAD)
- HGVS: