Links from Gene
Items: 1 to 20 of 1047
1.
rs1489576928 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 12:55493557
(GRCh38)
12:55887341
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55493556:CA:
- Gene:
- OR6C68 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
2.
rs1485962881 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:55492357
(GRCh38)
12:55886141
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55492356:G:A
- Gene:
- OR6C68 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_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:
3.
rs1485304468 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:55493209
(GRCh38)
12:55886993
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55493208:T:C
- Gene:
- OR6C68 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
4.
rs1484058214 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:55491068
(GRCh38)
12:55884852
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55491067:G:A
- Gene:
- OR6C68 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000156/1
(1000Genomes)
- HGVS:
5.
rs1482911813 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:55493049
(GRCh38)
12:55886833
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55493048:A:G
- Gene:
- OR6C68 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000008/2
(GnomAD_exomes)
G=0.000342/1
(KOREAN)
G=0.000354/6
(TOMMO)
- HGVS:
6.
rs1482882447 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:55492419
(GRCh38)
12:55886203
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55492418:A:T
- Gene:
- OR6C68 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
7.
rs1482556691 has merged into rs11349400 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:55493645
(GRCh38)
12:55887429
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55493631:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:55493631:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:55493631:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:55493631:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:55493631:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:55493631:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:55493631:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:55493631:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:55493631:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:55493631:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:55493631:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:55493631:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:55493631:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:55493631:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- OR6C68 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.1997/1000
(1000Genomes)
- HGVS:
NC_000012.12:g.55493645_55493650del, NC_000012.12:g.55493647_55493650del, NC_000012.12:g.55493648_55493650del, NC_000012.12:g.55493649_55493650del, NC_000012.12:g.55493650del, NC_000012.12:g.55493650dup, NC_000012.12:g.55493649_55493650dup, NC_000012.12:g.55493648_55493650dup, NC_000012.12:g.55493647_55493650dup, NC_000012.12:g.55493646_55493650dup, NC_000012.12:g.55493644_55493650dup, NC_000012.12:g.55493634_55493650dup, NC_000012.12:g.55493632_55493650dup, NC_000012.12:g.55493650_55493651insTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.55887429_55887434del, NC_000012.11:g.55887431_55887434del, NC_000012.11:g.55887432_55887434del, NC_000012.11:g.55887433_55887434del, NC_000012.11:g.55887434del, NC_000012.11:g.55887434dup, NC_000012.11:g.55887433_55887434dup, NC_000012.11:g.55887432_55887434dup, NC_000012.11:g.55887431_55887434dup, NC_000012.11:g.55887430_55887434dup, NC_000012.11:g.55887428_55887434dup, NC_000012.11:g.55887418_55887434dup, NC_000012.11:g.55887416_55887434dup, NC_000012.11:g.55887434_55887435insTTTTTTTTTTTTTTTTTTTTTT, NG_034004.1:g.6268_6273del, NG_034004.1:g.6270_6273del, NG_034004.1:g.6271_6273del, NG_034004.1:g.6272_6273del, NG_034004.1:g.6273del, NG_034004.1:g.6273dup, NG_034004.1:g.6272_6273dup, NG_034004.1:g.6271_6273dup, NG_034004.1:g.6270_6273dup, NG_034004.1:g.6269_6273dup, NG_034004.1:g.6267_6273dup, NG_034004.1:g.6257_6273dup, NG_034004.1:g.6255_6273dup, NG_034004.1:g.6273_6274insTTTTTTTTTTTTTTTTTTTTTT
8.
rs1482412020 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:55492661
(GRCh38)
12:55886445
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55492660:G:A
- Gene:
- OR6C68 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000045/2
(
ALFA)
A=0.000008/2
(GnomAD_exomes)
- HGVS:
10.
rs1481863838 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:55491127
(GRCh38)
12:55884911
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55491126:C:G
- Gene:
- OR6C68 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1480099991 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:55492793
(GRCh38)
12:55886577
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55492792:G:A
- Gene:
- OR6C68 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000014/2
(GnomAD)
- HGVS:
12.
rs1479038033 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 12:55493631
(GRCh38)
12:55887415
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55493629:TCT:T
- Gene:
- OR6C68 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.0011/2
(Korea1K)
- HGVS:
13.
rs1477029975 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:55491728
(GRCh38)
12:55885512
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55491727:T:A
- Gene:
- OR6C68 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
15.
rs1474873473 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:55493553
(GRCh38)
12:55887337
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55493552:T:C
- Gene:
- OR6C68 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1474401824 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:55492877
(GRCh38)
12:55886661
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55492876:G:A
- Gene:
- OR6C68 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
18.
rs1473718613 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:55490875
(GRCh38)
12:55884659
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55490874:G:T
- Gene:
- OR6C68 (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:
19.
rs1473090344 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:55493382
(GRCh38)
12:55887166
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55493381:A:C
- Gene:
- OR6C68 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1472576703 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:55493198
(GRCh38)
12:55886982
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55493197:T:C
- Gene:
- OR6C68 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS: