Links from Nucleotide
Items: 1 to 20 of 202
1.
rs1484935574 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:11179710
(GRCh38)
12:11332308
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11179709:G:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
2.
rs1483492616 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:11180223
(GRCh38)
12:11332822
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11180222:G:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000066/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
3.
rs1482622798 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:11179850
(GRCh38)
12:11332448
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11179849:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
4.
rs1480838407 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:11179858
(GRCh38)
12:11332456
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11179857:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000026/7
(TOPMED)
- HGVS:
5.
rs1479052475 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:11180252
(GRCh38)
12:11332851
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11180251:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
6.
rs1475743293 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:11179580
(GRCh38)
12:11332178
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11179579:T:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
7.
rs1474170121 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:11180250
(GRCh38)
12:11332849
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11180249:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1460651081 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 12:11179673
(GRCh38)
12:11332271
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11179672:A:C,NC_000012.12:11179672:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
C=0.000342/1
(KOREAN)
- HGVS:
9.
rs1457849882 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:11179731
(GRCh38)
12:11332329
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11179730:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
10.
rs1454410150 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 12:11180431
(GRCh38)
12:11333030
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11180430:A:C,NC_000012.12:11180430:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
11.
rs1453596123 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:11180487
(GRCh38)
12:11333086
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11180486:C:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1448176524 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 12:11180540
(GRCh38)
12:11333139
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11180539:CC:
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
13.
rs1439667260 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:11179768
(GRCh38)
12:11332366
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11179767:A:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1436449009 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 12:11180134
(GRCh38)
12:-1
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11180134::C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.196213/3368
(
ALFA)
-=0.222205/1423
(1000Genomes)
-=0.227263/6422
(TOMMO)
-=0.234421/62049
(TOPMED)
-=0.239057/33456
(GnomAD)
- HGVS:
15.
rs1430793022 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:11179695
(GRCh38)
12:11332293
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11179694:C:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1428454987 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 12:11180283
(GRCh38)
12:11332882
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11180282:T:C,NC_000012.12:11180282:T:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1427316968 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 12:11179805
(GRCh38)
12:11332403
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11179804:C:G,NC_000012.12:11179804:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
19.
rs1423217768 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:11179974
(GRCh38)
12:11332572
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11179973:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
20.
rs1419971368 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:11180007
(GRCh38)
12:11332605
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11180006:C:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS: