Links from Gene
Items: 1 to 20 of 879
1.
rs1490524568 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AACACACA>-
[Show Flanks]
- Chromosome:
- 11:4998194
(GRCh38)
11:5019424
(GRCh37)
- Canonical SPDI:
- NC_000011.10:4998189:CACAAACACACA:CACA
- Gene:
- OR51L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CACA=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
2.
rs1489340678 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:4999219
(GRCh38)
11:5020449
(GRCh37)
- Canonical SPDI:
- NC_000011.10:4999218:A:G
- Gene:
- OR51L1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
3.
rs1488893359 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 11:4999291
(GRCh38)
11:5020521
(GRCh37)
- Canonical SPDI:
- NC_000011.10:4999290:G:A,NC_000011.10:4999290:G:C
- Gene:
- OR51L1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000051/1
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
C=0.000004/1
(TOPMED)
- HGVS:
4.
rs1487372164 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:4999852
(GRCh38)
11:5021082
(GRCh37)
- Canonical SPDI:
- NC_000011.10:4999851:C:A
- Gene:
- OR51L1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
5.
rs1486434125 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:4997484
(GRCh38)
11:5018714
(GRCh37)
- Canonical SPDI:
- NC_000011.10:4997483:C:T
- Gene:
- OR51L1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
6.
rs1486078891 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:4998420
(GRCh38)
11:5019650
(GRCh37)
- Canonical SPDI:
- NC_000011.10:4998419:A:G
- Gene:
- OR51L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1485706194 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 11:4999448
(GRCh38)
11:5020678
(GRCh37)
- Canonical SPDI:
- NC_000011.10:4999447:G:A,NC_000011.10:4999447:G:T
- Gene:
- OR51L1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,stop_gained
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000043/1
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000016/4
(GnomAD_exomes)
A=0.000021/3
(GnomAD)
- HGVS:
8.
rs1485325049 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACGCA>-
[Show Flanks]
- Chromosome:
- 11:4998232
(GRCh38)
11:5019462
(GRCh37)
- Canonical SPDI:
- NC_000011.10:4998229:CACACACGCA:CA
- Gene:
- OR51L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CA=0./0
(
ALFA)
-=0.000008/1
(GnomAD)
-=0.000312/2
(1000Genomes)
- HGVS:
10.
rs1484755824 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 11:4999876
(GRCh38)
11:5021106
(GRCh37)
- Canonical SPDI:
- NC_000011.10:4999875:AAA:AA
- Gene:
- OR51L1 (Varview)
- Functional Consequence:
- frameshift_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000106/2
(TOMMO)
- HGVS:
14.
rs1481791525 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AACACA>-
[Show Flanks]
- Chromosome:
- 11:4998194
(GRCh38)
11:5019424
(GRCh37)
- Canonical SPDI:
- NC_000011.10:4998189:CACAAACACA:CACA
- Gene:
- OR51L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CACA=0./0
(
ALFA)
-=0.00011/9
(GnomAD)
- HGVS:
15.
rs1480038048 has merged into rs3066001 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACACACACACACACACAC>-,ACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 11:4998205
(GRCh38)
11:5019435
(GRCh37)
- Canonical SPDI:
- NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000011.10:4998194:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- OR51L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACAC=0./0
(
ALFA)
- HGVS:
NC_000011.10:g.4998195AC[5], NC_000011.10:g.4998195AC[7], NC_000011.10:g.4998195AC[9], NC_000011.10:g.4998195AC[10], NC_000011.10:g.4998195AC[11], NC_000011.10:g.4998195AC[12], NC_000011.10:g.4998195AC[13], NC_000011.10:g.4998195AC[14], NC_000011.10:g.4998195AC[15], NC_000011.10:g.4998195AC[16], NC_000011.10:g.4998195AC[17], NC_000011.10:g.4998195AC[18], NC_000011.10:g.4998195AC[19], NC_000011.10:g.4998195AC[20], NC_000011.10:g.4998195AC[22], NC_000011.10:g.4998195AC[23], NC_000011.10:g.4998195AC[24], NC_000011.10:g.4998195AC[25], NC_000011.10:g.4998195AC[26], NC_000011.9:g.5019425AC[5], NC_000011.9:g.5019425AC[7], NC_000011.9:g.5019425AC[9], NC_000011.9:g.5019425AC[10], NC_000011.9:g.5019425AC[11], NC_000011.9:g.5019425AC[12], NC_000011.9:g.5019425AC[13], NC_000011.9:g.5019425AC[14], NC_000011.9:g.5019425AC[15], NC_000011.9:g.5019425AC[16], NC_000011.9:g.5019425AC[17], NC_000011.9:g.5019425AC[18], NC_000011.9:g.5019425AC[19], NC_000011.9:g.5019425AC[20], NC_000011.9:g.5019425AC[22], NC_000011.9:g.5019425AC[23], NC_000011.9:g.5019425AC[24], NC_000011.9:g.5019425AC[25], NC_000011.9:g.5019425AC[26]
16.
rs1479943789 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:5000336
(GRCh38)
11:5021566
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5000335:A:G
- Gene:
- OR51L1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1479713907 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:4997828
(GRCh38)
11:5019058
(GRCh37)
- Canonical SPDI:
- NC_000011.10:4997827:G:A
- Gene:
- OR51L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1478903640 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:4999134
(GRCh38)
11:5020364
(GRCh37)
- Canonical SPDI:
- NC_000011.10:4999133:T:C
- Gene:
- OR51L1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
19.
rs1478429474 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 11:4999173
(GRCh38)
11:5020403
(GRCh37)
- Canonical SPDI:
- NC_000011.10:4999171:TTT:T
- Gene:
- OR51L1 (Varview)
- Functional Consequence:
- frameshift_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
20.
rs1477270712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 11:4999468
(GRCh38)
11:5020698
(GRCh37)
- Canonical SPDI:
- NC_000011.10:4999467:T:A,NC_000011.10:4999467:T:C
- Gene:
- OR51L1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000007/1
(GnomAD)
- HGVS: