Links from Gene
Items: 1 to 20 of 8939
2.
rs1491557876 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 19:14815817
(GRCh38)
19:14926629
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14815815:TCT:T
- Gene:
- OR7C1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00008/1
(
ALFA)
-=0.06591/254
(ALSPAC)
-=0.06823/253
(TWINSUK)
- HGVS:
5.
rs1491026604 has merged into rs71168507 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,T,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:14810557
(GRCh38)
19:14921369
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14810546:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:14810546:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:14810546:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:14810546:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:14810546:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:14810546:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:14810546:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:14810546:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:14810546:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
- Gene:
- OR7C1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.14810557_14810564del, NC_000019.10:g.14810558_14810564del, NC_000019.10:g.14810559_14810564del, NC_000019.10:g.14810562_14810564del, NC_000019.10:g.14810563_14810564del, NC_000019.10:g.14810564del, NC_000019.10:g.14810564dup, NC_000019.10:g.14810563_14810564dup, NC_000019.10:g.14810562_14810564dup, NC_000019.9:g.14921369_14921376del, NC_000019.9:g.14921370_14921376del, NC_000019.9:g.14921371_14921376del, NC_000019.9:g.14921374_14921376del, NC_000019.9:g.14921375_14921376del, NC_000019.9:g.14921376del, NC_000019.9:g.14921376dup, NC_000019.9:g.14921375_14921376dup, NC_000019.9:g.14921374_14921376dup
6.
rs1490918968 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 19:14806418
(GRCh38)
19:14917230
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14806417:A:C,NC_000019.10:14806417:A:G
- Gene:
- OR7C1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
7.
rs1490870237 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:14827501
(GRCh38)
19:14938313
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14827500:A:C
- Gene:
- OR7A5 (Varview), OR7C1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000012/3
(GnomAD_exomes)
- HGVS:
8.
rs1490645850 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:14834405
(GRCh38)
19:14945217
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14834404:T:C
- Gene:
- OR7A5 (Varview), OR7C1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
9.
rs1490627946 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:14818727
(GRCh38)
19:14929539
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14818726:C:T
- Gene:
- OR7C1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
- HGVS:
10.
rs1490612694 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:14819853
(GRCh38)
19:14930665
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14819852:G:A
- Gene:
- OR7C1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490420761 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:14804323
(GRCh38)
19:14915135
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14804322:A:G
- Gene:
- OR7C1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
12.
rs1490293828 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:14809799
(GRCh38)
19:14920611
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14809798:T:G
- Gene:
- OR7C1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490257719 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:14804795
(GRCh38)
19:14915607
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14804794:C:T
- Gene:
- OR7C1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
14.
rs1490181734 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:14811322
(GRCh38)
19:14922134
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14811321:C:G
- Gene:
- OR7C1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490031441 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:14826729
(GRCh38)
19:14937541
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14826728:C:T
- Gene:
- OR7A5 (Varview), OR7C1 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
16.
rs1489997380 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:14827959
(GRCh38)
19:14938771
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14827958:T:C
- Gene:
- OR7A5 (Varview), OR7C1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000051/1
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000019.10:g.14827959T>C, NC_000019.9:g.14938771T>C, NM_017506.2:c.283A>G, NM_017506.1:c.283A>G, NM_001370481.1:c.283A>G, NM_001370483.1:c.283A>G, NM_001370482.1:c.283A>G, NM_001370480.1:c.283A>G, NP_059976.1:p.Ile95Val, NP_001357410.1:p.Ile95Val, NP_001357412.1:p.Ile95Val, NP_001357411.1:p.Ile95Val, NP_001357409.1:p.Ile95Val
17.
rs1489881846 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:14812915
(GRCh38)
19:14923727
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14812914:A:G
- Gene:
- OR7C1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000214/3
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
18.
rs1489869743 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:14827226
(GRCh38)
19:14938038
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14827225:T:A
- Gene:
- OR7A5 (Varview), OR7C1 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
19.
rs1489810489 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 19:14819201
(GRCh38)
19:14930013
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14819200:T:A,NC_000019.10:14819200:T:G
- Gene:
- OR7C1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1489795365 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:14820299
(GRCh38)
19:14931111
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14820298:C:T
- Gene:
- OR7C1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS: