Links from Gene
Items: 1 to 20 of 995
1.
rs1489874336 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:122789431
(GRCh38)
9:125551710
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122789430:A:G
- Gene:
- OR5C1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
2.
rs1489486057 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:122788280
(GRCh38)
9:125550559
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122788279:C:T
- Gene:
- OR5C1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000684/2
(KOREAN)
- HGVS:
3.
rs1489385740 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:122789337
(GRCh38)
9:125551616
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122789336:C:T
- Gene:
- OR5C1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1489085118 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:122789723
(GRCh38)
9:125552002
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122789722:T:C
- Gene:
- OR5C1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000008/2
(GnomAD_exomes)
- HGVS:
5.
rs1488124723 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:122787518
(GRCh38)
9:125549797
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122787517:T:C
- Gene:
- OR5C1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_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.
rs1487917037 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTA>-
[Show Flanks]
- Chromosome:
- 9:122787875
(GRCh38)
9:125550154
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122787873:ATTTA:A
- Gene:
- OR5C1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
7.
rs1487915317 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:122786943
(GRCh38)
9:125549222
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122786942:T:A
- Gene:
- OR5C1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000506/6
(
ALFA)
A=0.001049/120
(GnomAD)
A=0.001453/24
(TOMMO)
A=0.001689/3
(Korea1K)
A=0.010212/27
(KOREAN)
T=0.5/5
(SGDP_PRJ)
- HGVS:
8.
rs1486471228 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:122787008
(GRCh38)
9:125549287
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122787007:C:T
- Gene:
- OR5C1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
9.
rs1486378795 has merged into rs750031491 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 9:122788101
(GRCh38)
9:125550380
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122788086:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:122788086:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:122788086:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:122788086:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:122788086:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:122788086:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Gene:
- OR5C1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.35/14
(GENOME_DK)
- HGVS:
NC_000009.12:g.122788101_122788103del, NC_000009.12:g.122788102_122788103del, NC_000009.12:g.122788103del, NC_000009.12:g.122788103dup, NC_000009.12:g.122788102_122788103dup, NC_000009.12:g.122788101_122788103dup, NC_000009.11:g.125550380_125550382del, NC_000009.11:g.125550381_125550382del, NC_000009.11:g.125550382del, NC_000009.11:g.125550382dup, NC_000009.11:g.125550381_125550382dup, NC_000009.11:g.125550380_125550382dup
10.
rs1486319766 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:122788328
(GRCh38)
9:125550607
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122788327:C:T
- Gene:
- OR5C1 (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)
- HGVS:
11.
rs1486054641 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:122787589
(GRCh38)
9:125549868
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122787588:G:A
- Gene:
- OR5C1 (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)
A=0.000342/1
(KOREAN)
- HGVS:
12.
rs1484789180 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAATATATA>-
[Show Flanks]
- Chromosome:
- 9:122786934
(GRCh38)
9:125549213
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122786932:AAAATATATA:A
- Gene:
- OR5C1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00405/48
(
ALFA)
-=0.00011/2
(TOMMO)
-=0.00502/476
(GnomAD)
- HGVS:
13.
rs1483829072 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:122788647
(GRCh38)
9:125550926
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122788646:G:T
- Gene:
- OR5C1 (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:
14.
rs1481420640 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:122790394
(GRCh38)
9:125552673
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122790393:C:T
- Gene:
- OR5C1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1479720319 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:122790233
(GRCh38)
9:125552512
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122790232:G:A
- Gene:
- OR5C1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1479618268 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:122789513
(GRCh38)
9:125551792
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122789512:G:A
- Gene:
- OR5C1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1478236865 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:122789405
(GRCh38)
9:125551684
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122789404:T:C
- Gene:
- OR5C1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1477698508 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:122788752
(GRCh38)
9:125551031
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122788751:G:A
- Gene:
- OR5C1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
19.
rs1477657886 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 9:122788641
(GRCh38)
9:125550920
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122788640:G:A,NC_000009.12:122788640:G:T
- Gene:
- OR5C1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
20.
rs1477258040 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:122787757
(GRCh38)
9:125550036
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122787756:T:C
- Gene:
- OR5C1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS: