Links from Nucleotide
Items: 1 to 20 of 382
1.
rs1486942948 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 14:20641025
(GRCh38)
14:21109184
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20641024:GG:G
- Gene:
- OR6S1 (Varview)
- Functional Consequence:
- coding_sequence_variant,frameshift_variant
- Validated:
- by frequency
- MAF:
-=0.000004/1
(GnomAD_exomes)
- HGVS:
2.
rs1483094390 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:20641678
(GRCh38)
14:21109837
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20641677:C:A
- Gene:
- OR6S1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_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.
rs1481645891 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 14:20640791
(GRCh38)
14:21108950
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20640790:T:A,NC_000014.9:20640790:T:C
- Gene:
- OR6S1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,stop_gained
- Validated:
- by frequency,by cluster
- MAF:
A=0.000004/1
(GnomAD_exomes)
C=0.000035/1
(TOMMO)
- HGVS:
4.
rs1478480615 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:20641462
(GRCh38)
14:21109621
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20641461:G:C
- Gene:
- OR6S1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
5.
rs1477188533 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:20641160
(GRCh38)
14:21109319
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20641159:G:A
- Gene:
- OR6S1 (Varview)
- Functional Consequence:
- stop_gained,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
6.
rs1473319654 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:20640886
(GRCh38)
14:21109045
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20640885:C:A
- Gene:
- OR6S1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000008/2
(GnomAD_exomes)
A=0.000014/2
(GnomAD)
- HGVS:
7.
rs1469603829 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:20641130
(GRCh38)
14:21109289
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20641129:G:A
- Gene:
- OR6S1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1466840800 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:20641331
(GRCh38)
14:21109490
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20641330:A:G
- Gene:
- OR6S1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1463642190 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 14:20641439
(GRCh38)
14:21109598
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20641438:T:A
- Gene:
- OR6S1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.0003/1
(KOREAN)
- HGVS:
11.
rs1460423195 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:20641671
(GRCh38)
14:21109830
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20641670:G:C
- Gene:
- OR6S1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1457270824 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 14:20641484
(GRCh38)
14:21109643
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20641483:A:C,NC_000014.9:20641483:A:G
- Gene:
- OR6S1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000047/1
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1456736476 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:20641576
(GRCh38)
14:21109735
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20641575:A:G
- Gene:
- OR6S1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
14.
rs1456190779 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 14:20641076
(GRCh38)
14:21109235
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20641075:C:A,NC_000014.9:20641075:C:T
- Gene:
- OR6S1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
16.
rs1446295995 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 14:20641306
(GRCh38)
14:21109465
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20641305:C:A,NC_000014.9:20641305:C:G,NC_000014.9:20641305:C:T
- Gene:
- OR6S1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000014.9:g.20641306C>A, NC_000014.9:g.20641306C>G, NC_000014.9:g.20641306C>T, NC_000014.8:g.21109465C>A, NC_000014.8:g.21109465C>G, NC_000014.8:g.21109465C>T, NM_001001968.1:c.386G>T, NM_001001968.1:c.386G>C, NM_001001968.1:c.386G>A, NP_001001968.1:p.Cys129Phe, NP_001001968.1:p.Cys129Ser, NP_001001968.1:p.Cys129Tyr
17.
rs1445893072 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:20641613
(GRCh38)
14:21109772
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20641612:C:T
- Gene:
- OR6S1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
19.
rs1439530940 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:20640786
(GRCh38)
14:21108945
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20640785:T:C
- Gene:
- OR6S1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000028/1
(
ALFA)
C=0.000045/12
(TOPMED)
C=0.000057/8
(GnomAD)
- HGVS: