Links from Nucleotide
Items: 1 to 20 of 279
1.
rs1489167554 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:9397621
(GRCh38)
12:9550217
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9397620:T:C
- Gene:
- LOC728715 (Varview), LINC02367 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000029/4
(GnomAD)
C=0.002053/6
(KOREAN)
C=0.002194/37
(TOMMO)
T=0.5/1
(SGDP_PRJ)
- HGVS:
2.
rs1488150479 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TATTG>-
[Show Flanks]
- Chromosome:
- 12:9400307
(GRCh38)
12:9552903
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9400306:TATTG:
- Gene:
- LOC728715 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
3.
rs1485136074 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:9407364
(GRCh38)
12:9559960
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9407363:G:A
- Gene:
- LOC728715 (Varview), LOC105369647 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000023/6
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
4.
rs1483763656 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:9402466
(GRCh38)
12:9555062
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9402465:G:A
- Gene:
- LOC728715 (Varview)
- Functional Consequence:
- non_coding_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:
5.
rs1482309100 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 12:9397124
(GRCh38)
12:9549720
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9397123:A:G,NC_000012.12:9397123:A:T
- Gene:
- LOC728715 (Varview), LINC02367 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
6.
rs1479494900 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:9401780
(GRCh38)
12:9554376
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9401779:G:A
- Gene:
- LOC728715 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.001096/13
(
ALFA)
A=0.000841/114
(GnomAD)
- HGVS:
7.
rs1478991744 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:9397158
(GRCh38)
12:9549754
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9397157:A:G
- Gene:
- LOC728715 (Varview), LINC02367 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.00005/7
(GnomAD)
- HGVS:
8.
rs1475104633 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:9406357
(GRCh38)
12:9558953
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9406356:A:G
- Gene:
- LOC728715 (Varview), LOC105369647 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.42177/5003
(
ALFA)
G=0.00015/2
(GnomAD)
G=0.00018/5
(TOMMO)
G=0.19131/559
(KOREAN)
- HGVS:
9.
rs1470560210 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:9397155
(GRCh38)
12:9549751
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9397154:A:G
- Gene:
- LOC728715 (Varview), LINC02367 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1469377576 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACTGGATCCT>-
[Show Flanks]
- Chromosome:
- 12:9402540
(GRCh38)
12:9555136
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9402537:CTCACTGGATCCT:CT
- Gene:
- LOC728715 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
13.
rs1459601550 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:9401843
(GRCh38)
12:9554439
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9401842:T:C
- Gene:
- LOC728715 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1456991643 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:9397070
(GRCh38)
12:9549666
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9397069:G:A
- Gene:
- LOC728715 (Varview), LINC02367 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
16.
rs1456446860 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:9399825
(GRCh38)
12:9552421
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9399824:C:T
- Gene:
- LOC728715 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/2
(GnomAD)
- HGVS:
17.
rs1454855857 has merged into rs368045566 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTGAC
[Show Flanks]
- Chromosome:
- 12:9397100
(GRCh38)
12:9549697
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9397100:GACTTGAC:GACTTGACTTGAC
- Gene:
- LOC728715 (Varview), LINC02367 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GACTTGACTTGAC=0.000169/2
(
ALFA)
GACTT=0.000214/30
(GnomAD)
GACTT=0.000468/3
(1000Genomes)
- HGVS:
18.
rs1454463508 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:9398421
(GRCh38)
12:9551017
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9398420:G:A,NC_000012.12:9398420:G:C
- Gene:
- LOC728715 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1432534411 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGAT
[Show Flanks]
- Chromosome:
- 12:9397086
(GRCh38)
12:9549683
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9397086:TGAT:TGATTGAT
- Gene:
- LOC728715 (Varview), LINC02367 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TGATTGAT=0./0
(
ALFA)
TGAT=0.000064/9
(GnomAD)
- HGVS: