Links from Nucleotide
Items: 1 to 20 of 407
1.
rs1484305296 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:104599246
(GRCh38)
9:107361527
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104599245:G:A
- Gene:
- OR13C5 (Varview), LOC107987105 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
2.
rs1483627585 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AT
[Show Flanks]
- Chromosome:
- 9:104598666
(GRCh38)
9:107360948
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104598666:TAT:TATAT
- Gene:
- OR13C5 (Varview), LOC107987105 (Varview)
- Functional Consequence:
- coding_sequence_variant,stop_gained,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
TA=0.000007/1
(GnomAD)
- HGVS:
3.
rs1482002562 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:104598498
(GRCh38)
9:107360779
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104598497:C:T
- Gene:
- OR13C5 (Varview), LOC107987105 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000028/1
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
4.
rs1479902017 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:104598561
(GRCh38)
9:107360842
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104598560:T:C
- Gene:
- OR13C5 (Varview), LOC107987105 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000008/2
(GnomAD_exomes)
- HGVS:
6.
rs1473052548 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:104599222
(GRCh38)
9:107361503
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104599221:C:T
- Gene:
- OR13C5 (Varview), LOC107987105 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1471764699 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:104598739
(GRCh38)
9:107361020
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104598738:G:A
- Gene:
- OR13C5 (Varview), LOC107987105 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
- HGVS:
9.
rs1467172306 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:104599187
(GRCh38)
9:107361468
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104599186:G:A
- Gene:
- OR13C5 (Varview), LOC107987105 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_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)
A=0.000354/6
(TOMMO)
- HGVS:
10.
rs1466655273 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:104598950
(GRCh38)
9:107361231
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104598949:T:C
- Gene:
- OR13C5 (Varview), LOC107987105 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
12.
rs1458234276 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:104598534
(GRCh38)
9:107360815
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104598533:A:G
- Gene:
- OR13C5 (Varview), LOC107987105 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1455823903 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:104599401
(GRCh38)
9:107361682
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104599400:T:A
- Gene:
- OR13C5 (Varview), LOC107987105 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
15.
rs1455140474 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:104598493
(GRCh38)
9:107360774
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104598492:T:A
- Gene:
- OR13C5 (Varview), LOC107987105 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1443047555 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:104599304
(GRCh38)
9:107361585
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104599303:A:G
- Gene:
- OR13C5 (Varview), LOC107987105 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
20.
rs1440420344 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 9:104598782
(GRCh38)
9:107361063
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104598781:AAA:AA
- Gene:
- OR13C5 (Varview), LOC107987105 (Varview)
- Functional Consequence:
- coding_sequence_variant,frameshift_variant,intron_variant
- Validated:
- by frequency
- MAF:
-=0.000004/1
(GnomAD_exomes)
- HGVS: