Links from Gene
Items: 1 to 20 of 1350
1.
rs1490856557 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 9:111327247
(GRCh38)
9:114089527
(GRCh37)
- Canonical SPDI:
- NC_000009.12:111327246:TTT:TT
- Gene:
- OR2K2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490047342 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 9:111326666
(GRCh38)
9:114088946
(GRCh37)
- Canonical SPDI:
- NC_000009.12:111326665:T:C,NC_000009.12:111326665:T:G
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
3.
rs1489764754 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 9:111329383
(GRCh38)
9:114091663
(GRCh37)
- Canonical SPDI:
- NC_000009.12:111329382:AA:A
- Gene:
- OR2K2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
4.
rs1489196703 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 9:111329776
(GRCh38)
9:114092057
(GRCh37)
- Canonical SPDI:
- NC_000009.12:111329776:AAA:AAAA
- Gene:
- OR2K2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAA=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
5.
rs1486689095 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:111328053
(GRCh38)
9:114090333
(GRCh37)
- Canonical SPDI:
- NC_000009.12:111328052:A:G
- Gene:
- OR2K2 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
6.
rs1486353046 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 9:111332190
(GRCh38)
9:114094470
(GRCh37)
- Canonical SPDI:
- NC_000009.12:111332189:A:G,NC_000009.12:111332189:A:T
- Gene:
- OR2K2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
8.
rs1485660231 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:111329435
(GRCh38)
9:114091715
(GRCh37)
- Canonical SPDI:
- NC_000009.12:111329434:A:G
- Gene:
- OR2K2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000023/6
(TOPMED)
G=0.000043/6
(GnomAD)
- HGVS:
9.
rs1485537394 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 9:111331227
(GRCh38)
9:114093507
(GRCh37)
- Canonical SPDI:
- NC_000009.12:111331226:A:T
- Gene:
- OR2K2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1484451434 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:111330638
(GRCh38)
9:114092918
(GRCh37)
- Canonical SPDI:
- NC_000009.12:111330637:T:C
- Gene:
- OR2K2 (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:
12.
rs1482469392 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 9:111331692
(GRCh38)
9:114093972
(GRCh37)
- Canonical SPDI:
- NC_000009.12:111331691:A:T
- Gene:
- OR2K2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1482156365 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:111328100
(GRCh38)
9:114090380
(GRCh37)
- Canonical SPDI:
- NC_000009.12:111328099:A:G
- Gene:
- OR2K2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000047/1
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
- HGVS:
15.
rs1481873354 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:111331385
(GRCh38)
9:114093665
(GRCh37)
- Canonical SPDI:
- NC_000009.12:111331384:C:T
- Gene:
- OR2K2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
16.
rs1481821445 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:111328472
(GRCh38)
9:114090752
(GRCh37)
- Canonical SPDI:
- NC_000009.12:111328471:C:G
- Gene:
- OR2K2 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency
- MAF:
G=0.000005/1
(GnomAD_exomes)
- HGVS:
17.
rs1480666409 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:111331548
(GRCh38)
9:114093828
(GRCh37)
- Canonical SPDI:
- NC_000009.12:111331547:T:A
- Gene:
- OR2K2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1480008976 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 9:111330594
(GRCh38)
9:114092874
(GRCh37)
- Canonical SPDI:
- NC_000009.12:111330593:C:A,NC_000009.12:111330593:C:T
- Gene:
- OR2K2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
19.
rs1479938618 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:111329196
(GRCh38)
9:114091476
(GRCh37)
- Canonical SPDI:
- NC_000009.12:111329195:T:C
- Gene:
- OR2K2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1479929422 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:111326832
(GRCh38)
9:114089112
(GRCh37)
- Canonical SPDI:
- NC_000009.12:111326831:A:G
- Gene:
- OR2K2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: