Links from Nucleotide
Items: 1 to 20 of 108
2.
rs1479442512 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 7:144355422
(GRCh38)
7:144052515
(GRCh37)
- Canonical SPDI:
- NC_000007.14:144355421:G:A,NC_000007.14:144355421:G:T
- Gene:
- ARHGEF5 (Varview), OR2A1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00484/78
(
ALFA)
A=0.014454/1702
(GnomAD)
A=0.03857/247
(1000Genomes)
A=0.114903/202
(Korea1K)
A=0.116115/330
(KOREAN)
A=0.129454/2167
(TOMMO)
G=0.461538/12
(SGDP_PRJ)
- HGVS:
NC_000007.14:g.144355422G>A, NC_000007.14:g.144355422G>T, NC_000007.13:g.144052515G>A, NC_000007.13:g.144052515G>T, NW_018654715.1:g.404911G>A, NW_018654715.1:g.404911G>T, NM_005435.4:c.-92G>A, NM_005435.4:c.-92G>T, NM_005435.3:c.-92G>A, NM_005435.3:c.-92G>T, XM_017012623.3:c.-92G>A, XM_017012623.3:c.-92G>T, XM_017012623.2:c.-92G>A, XM_017012623.2:c.-92G>T, XM_017012623.1:c.-92G>A, XM_017012623.1:c.-92G>T, NM_001002861.1:c.-92G>A, NM_001002861.1:c.-92G>T, NR_126023.1:n.297C>T, NR_126023.1:n.297C>A
4.
rs1474222655 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 7:144238671
(GRCh38)
7:143935764
(GRCh37)
- Canonical SPDI:
- NC_000007.14:144238670:T:A
- Gene:
- OR2A42 (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1473929016 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:144238697
(GRCh38)
7:143935790
(GRCh37)
- Canonical SPDI:
- NC_000007.14:144238696:G:T
- Gene:
- OR2A42 (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000066/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1472302163 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- 7:144343297
(GRCh38)
7:144040390
(GRCh37)
- Canonical SPDI:
- NC_000007.14:144343296:A:C,NC_000007.14:144343296:A:G,NC_000007.14:144343296:A:T
- Gene:
- OR2A1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by cluster
- HGVS:
NC_000007.14:g.144343297A>C, NC_000007.14:g.144343297A>G, NC_000007.14:g.144343297A>T, NC_000007.13:g.144040390A>C, NC_000007.13:g.144040390A>G, NC_000007.13:g.144040390A>T, NW_018654715.1:g.392794A>C, NW_018654715.1:g.392794A>G, NW_018654715.1:g.392794A>T, NR_126023.1:n.383T>G, NR_126023.1:n.383T>C, NR_126023.1:n.383T>A
8.
rs1470153580 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:144238646
(GRCh38)
7:143935739
(GRCh37)
- Canonical SPDI:
- NC_000007.14:144238645:C:A,NC_000007.14:144238645:C:T
- Gene:
- OR2A42 (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
C=0.5/1
(SGDP_PRJ)
- HGVS:
9.
rs1470136535 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:144239740
(GRCh38)
7:143936833
(GRCh37)
- Canonical SPDI:
- NC_000007.14:144239739:A:G
- Gene:
- OR2A42 (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000084/1
(
ALFA)
G=0.000022/3
(GnomAD)
- HGVS:
12.
rs1465117928 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 7:144355339
(GRCh38)
7:144052432
(GRCh37)
- Canonical SPDI:
- NC_000007.14:144355338:T:A
- Gene:
- ARHGEF5 (Varview), OR2A1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00025/4
(TOMMO)
A=0.00037/1
(KOREAN)
A=0.00114/2
(Korea1K)
- HGVS:
13.
rs1462836514 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 7:144239686
(GRCh38)
7:143936779
(GRCh37)
- Canonical SPDI:
- NC_000007.14:144239685:C:A
- Gene:
- OR2A42 (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/2
(GnomAD)
A=0.000071/1
(TOMMO)
- HGVS:
14.
rs1459250306 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 7:144239594
(GRCh38)
7:143936687
(GRCh37)
- Canonical SPDI:
- NC_000007.14:144239593:T:A,NC_000007.14:144239593:T:C
- Gene:
- OR2A42 (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
A=0.000016/2
(GnomAD)
- HGVS:
15.
rs1455738883 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:144355420
(GRCh38)
7:144052513
(GRCh37)
- Canonical SPDI:
- NC_000007.14:144355419:C:T
- Gene:
- ARHGEF5 (Varview), OR2A1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1449642453 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 7:144355446
(GRCh38)
7:144052539
(GRCh37)
- Canonical SPDI:
- NC_000007.14:144355445:C:A,NC_000007.14:144355445:C:G
- Gene:
- ARHGEF5 (Varview), OR2A1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
A=0.00006/1
(TOMMO)
- HGVS:
NC_000007.14:g.144355446C>A, NC_000007.14:g.144355446C>G, NC_000007.13:g.144052539C>A, NC_000007.13:g.144052539C>G, NW_018654715.1:g.404935C>A, NW_018654715.1:g.404935C>G, NM_005435.4:c.-68C>A, NM_005435.4:c.-68C>G, NM_005435.3:c.-68C>A, NM_005435.3:c.-68C>G, XM_017012623.3:c.-68C>A, XM_017012623.3:c.-68C>G, XM_017012623.2:c.-68C>A, XM_017012623.2:c.-68C>G, XM_017012623.1:c.-68C>A, XM_017012623.1:c.-68C>G, NM_001002861.1:c.-68C>A, NM_001002861.1:c.-68C>G, NR_126023.1:n.273G>T, NR_126023.1:n.273G>C
19.
rs1442083722 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 7:144239683
(GRCh38)
7:143936776
(GRCh37)
- Canonical SPDI:
- NC_000007.14:144239682:A:C,NC_000007.14:144239682:A:G
- Gene:
- OR2A42 (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1418499968 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:144239661
(GRCh38)
7:143936754
(GRCh37)
- Canonical SPDI:
- NC_000007.14:144239660:G:A
- Gene:
- OR2A42 (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/1
(GnomAD)
- HGVS: