Links from Gene
Items: 1 to 20 of 944
2.
rs1491331904 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GA
[Show Flanks]
- Chromosome:
- 14:20198731
(GRCh38)
14:20666891
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20198731::GA
- Gene:
- OR11G2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
GA=0./0
(
ALFA)
GA=0.000008/1
(GnomAD)
- HGVS:
3.
rs1489966791 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 14:20195846
(GRCh38)
14:20664005
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20195844:ATA:A
- Gene:
- OR11G2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000007/1
(GnomAD)
- HGVS:
4.
rs1488834294 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 14:20197313
(GRCh38)
14:20665472
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20197312:A:G,NC_000014.9:20197312:A:T
- Gene:
- OR11G2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
5.
rs1488379258 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:20197940
(GRCh38)
14:20666099
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20197939:C:A
- Gene:
- OR11G2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000094/1
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1486334637 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:20198722
(GRCh38)
14:20666881
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20198721:C:T
- Gene:
- OR11G2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000019/2
(GnomAD)
- HGVS:
7.
rs1483193117 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:20198747
(GRCh38)
14:20666906
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20198746:A:C
- Gene:
- OR11G2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
8.
rs1482753085 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 14:20197785
(GRCh38)
14:20665944
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20197784:C:A,NC_000014.9:20197784:C:G,NC_000014.9:20197784:C:T
- Gene:
- OR11G2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,synonymous_variant,stop_gained
- Validated:
- by frequency,by cluster
- MAF:
A=0.000004/1
(GnomAD_exomes)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000014.9:g.20197785C>A, NC_000014.9:g.20197785C>G, NC_000014.9:g.20197785C>T, NW_025791796.1:g.400466C>A, NW_025791796.1:g.400466C>G, NW_025791796.1:g.400466C>T, NC_000014.8:g.20665944C>A, NC_000014.8:g.20665944C>G, NC_000014.8:g.20665944C>T, NM_001005503.2:c.348C>A, NM_001005503.2:c.348C>G, NM_001005503.2:c.348C>T, NM_001005503.1:c.450C>A, NM_001005503.1:c.450C>G, NM_001005503.1:c.450C>T, NM_001386033.1:c.348C>A, NM_001386033.1:c.348C>G, NM_001386033.1:c.348C>T, NP_001005503.2:p.Cys116Ter, NP_001005503.2:p.Cys116Trp, NP_001372962.1:p.Cys116Ter, NP_001372962.1:p.Cys116Trp
9.
rs1481730150 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:20195544
(GRCh38)
14:20663703
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20195543:A:C
- Gene:
- OR11G2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
10.
rs1479948314 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 14:20196586
(GRCh38)
14:20664745
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20196585:C:A,NC_000014.9:20196585:C:T
- Gene:
- OR11G2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1479661467 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:20195568
(GRCh38)
14:20663727
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20195567:G:A
- Gene:
- OR11G2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1479510728 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 14:20197957
(GRCh38)
14:20666116
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20197956:GG:G
- Gene:
- OR11G2 (Varview)
- Functional Consequence:
- coding_sequence_variant,frameshift_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
13.
rs1478941720 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 14:20196776
(GRCh38)
14:20664935
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20196775:T:A,NC_000014.9:20196775:T:C
- Gene:
- OR11G2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS:
14.
rs1478430240 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:20196781
(GRCh38)
14:20664940
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20196780:A:G
- Gene:
- OR11G2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1477936292 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:20197193
(GRCh38)
14:20665352
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20197192:A:C
- Gene:
- OR11G2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1477864162 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- 14:20198180
(GRCh38)
14:20666339
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20198179:A:C,NC_000014.9:20198179:A:G,NC_000014.9:20198179:A:T
- Gene:
- OR11G2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000014.9:g.20198180A>C, NC_000014.9:g.20198180A>G, NC_000014.9:g.20198180A>T, NW_025791796.1:g.400861A>C, NW_025791796.1:g.400861A>G, NW_025791796.1:g.400861A>T, NC_000014.8:g.20666339A>C, NC_000014.8:g.20666339A>G, NC_000014.8:g.20666339A>T, NM_001005503.2:c.743A>C, NM_001005503.2:c.743A>G, NM_001005503.2:c.743A>T, NM_001005503.1:c.845A>C, NM_001005503.1:c.845A>G, NM_001005503.1:c.845A>T, NM_001386033.1:c.743A>C, NM_001386033.1:c.743A>G, NM_001386033.1:c.743A>T, NP_001005503.2:p.His248Pro, NP_001005503.2:p.His248Arg, NP_001005503.2:p.His248Leu, NP_001372962.1:p.His248Pro, NP_001372962.1:p.His248Arg, NP_001372962.1:p.His248Leu
17.
rs1477676148 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:20196901
(GRCh38)
14:20665060
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20196900:T:G
- Gene:
- OR11G2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000142/2
(
ALFA)
G=0.000034/9
(TOPMED)
G=0.000036/5
(GnomAD)
- HGVS:
18.
rs1477215947 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:20197281
(GRCh38)
14:20665440
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20197280:T:C
- Gene:
- OR11G2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1476406687 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 14:20198602
(GRCh38)
14:20666761
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20198600:CGC:C
- Gene:
- OR11G2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
- HGVS:
20.
rs1476343270 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:20197324
(GRCh38)
14:20665483
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20197323:A:T
- Gene:
- OR11G2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD_exomes)
- HGVS: