Links from Nucleotide
Items: 1 to 20 of 304
1.
rs1483921254 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:122519555
(GRCh38)
9:125281834
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122519554:G:A
- Gene:
- OR1J4 (Varview), OR1J2 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000028/1
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
2.
rs1482147159 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:122519200
(GRCh38)
9:125281479
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122519199:G:C
- Gene:
- OR1J4 (Varview), OR1J2 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
3.
rs1481842602 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:122519742
(GRCh38)
9:125282021
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122519741:C:A
- Gene:
- OR1J4 (Varview), OR1J2 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_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:
4.
rs1480636798 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:122519391
(GRCh38)
9:125281670
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122519390:G:A
- Gene:
- OR1J4 (Varview), OR1J2 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
5.
rs1479101957 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 9:122519989
(GRCh38)
9:125282268
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122519988:A:C,NC_000009.12:122519988:A:T
- Gene:
- OR1J4 (Varview), OR1J2 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000031/1
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
- HGVS:
6.
rs1474850700 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 9:122519569
(GRCh38)
9:125281848
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122519568:A:C
- Gene:
- OR1J4 (Varview), OR1J2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000004/1
(TOPMED)
- HGVS:
7.
rs1474524648 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:122519273
(GRCh38)
9:125281552
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122519272:A:G
- Gene:
- OR1J4 (Varview), OR1J2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000043/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
G=0.000016/4
(GnomAD_exomes)
- HGVS:
8.
rs1474270363 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:122519485
(GRCh38)
9:125281764
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122519484:C:G
- Gene:
- OR1J4 (Varview), OR1J2 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1473972148 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:122520008
(GRCh38)
9:125282287
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122520007:T:C
- Gene:
- OR1J4 (Varview), OR1J2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
10.
rs1471943328 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:122519284
(GRCh38)
9:125281563
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122519283:C:T
- Gene:
- OR1J4 (Varview), OR1J2 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1469575866 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 9:122519476
(GRCh38)
9:125281755
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122519475:T:G
- Gene:
- OR1J4 (Varview), OR1J2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
12.
rs1467028224 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:122519804
(GRCh38)
9:125282083
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122519803:G:C
- Gene:
- OR1J4 (Varview), OR1J2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1463954375 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:122519923
(GRCh38)
9:125282202
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122519922:C:A
- Gene:
- OR1J4 (Varview), OR1J2 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
15.
rs1456404912 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 9:122519211
(GRCh38)
9:125281490
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122519210:A:T
- Gene:
- OR1J4 (Varview), OR1J2 (Varview)
- Functional Consequence:
- missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1453965837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:122519795
(GRCh38)
9:125282074
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122519794:G:A
- Gene:
- OR1J4 (Varview), OR1J2 (Varview)
- Functional Consequence:
- missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1452575338 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:122520012
(GRCh38)
9:125282291
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122520011:G:A
- Gene:
- OR1J4 (Varview), OR1J2 (Varview)
- Functional Consequence:
- missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1443346561 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:122519433
(GRCh38)
9:125281712
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122519432:T:C
- Gene:
- OR1J4 (Varview), OR1J2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
19.
rs1440489606 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:122519295
(GRCh38)
9:125281574
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122519294:A:G
- Gene:
- OR1J4 (Varview), OR1J2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1439896085 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 9:122519362
(GRCh38)
9:125281641
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122519361:A:T
- Gene:
- OR1J4 (Varview), OR1J2 (Varview)
- Functional Consequence:
- synonymous_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS: