Links from Nucleotide
Items: 1 to 20 of 83
1.
rs1473721891 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:20229881
(GRCh38)
8:20087392
(GRCh37)
- Canonical SPDI:
- NC_000008.11:20229880:G:A
- Validated:
- by frequency,by alfa
- MAF:
A=0.00033/5
(
ALFA)
A=0.00112/5
(Estonian)
- HGVS:
3.
rs1466991872 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 8:20229888
(GRCh38)
8:20087399
(GRCh37)
- Canonical SPDI:
- NC_000008.11:20229886:AGA:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.000034/9
(TOPMED)
-=0.000035/1
(TOMMO)
-=0.000312/2
(1000Genomes)
- HGVS:
4.
rs1463645156 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:20229833
(GRCh38)
8:20087344
(GRCh37)
- Canonical SPDI:
- NC_000008.11:20229832:C:T
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
5.
rs1463595742 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 8:20229753
(GRCh38)
8:20087265
(GRCh37)
- Canonical SPDI:
- NC_000008.11:20229753:GGG:GGGG
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGG=0./0
(
ALFA)
G=0.000045/12
(TOPMED)
G=0.00005/7
(GnomAD)
- HGVS:
6.
rs1448331171 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:20229907
(GRCh38)
8:20087418
(GRCh37)
- Canonical SPDI:
- NC_000008.11:20229906: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:
7.
rs1447759108 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:20229820
(GRCh38)
8:20087331
(GRCh37)
- Canonical SPDI:
- NC_000008.11:20229819:C:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
8.
rs1445153148 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:20229894
(GRCh38)
8:20087405
(GRCh37)
- Canonical SPDI:
- NC_000008.11:20229893:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
9.
rs1441950347 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTCAGCAGCACATAC>-
[Show Flanks]
- Chromosome:
- 8:20229787
(GRCh38)
8:20087298
(GRCh37)
- Canonical SPDI:
- NC_000008.11:20229784:ACTTCAGCAGCACATAC:AC
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AC=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
10.
rs1428760764 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 8:20229884
(GRCh38)
8:20087395
(GRCh37)
- Canonical SPDI:
- NC_000008.11:20229883:G:A,NC_000008.11:20229883:G:T
- Validated:
- by frequency,by alfa
- MAF:
A=0.00033/5
(
ALFA)
A=0.00112/5
(Estonian)
- HGVS:
11.
rs1414343837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 8:20229745
(GRCh38)
8:20087256
(GRCh37)
- Canonical SPDI:
- NC_000008.11:20229744:T:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
12.
rs1412994203 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:20229729
(GRCh38)
8:20087240
(GRCh37)
- Canonical SPDI:
- NC_000008.11:20229728:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
14.
rs1405963033 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:20229756
(GRCh38)
8:20087267
(GRCh37)
- Canonical SPDI:
- NC_000008.11:20229755:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
15.
rs1405770317 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:20229950
(GRCh38)
8:20087461
(GRCh37)
- Canonical SPDI:
- NC_000008.11:20229949:A:G
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1401032433 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:20229725
(GRCh38)
8:20087236
(GRCh37)
- Canonical SPDI:
- NC_000008.11:20229724:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1394972298 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AAAT>-
[Show Flanks]
- Chromosome:
- 8:20229894
(GRCh38)
8:20087405
(GRCh37)
- Canonical SPDI:
- NC_000008.11:20229893:AAAT:
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000447/2
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000446/2
(Estonian)
- HGVS:
18.
rs1375542345 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:20229896
(GRCh38)
8:20087407
(GRCh37)
- Canonical SPDI:
- NC_000008.11:20229895: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:
19.
rs1351927388 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 8:20229943
(GRCh38)
8:20087454
(GRCh37)
- Canonical SPDI:
- NC_000008.11:20229941:AAA:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
20.
rs1345592708 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:20229862
(GRCh38)
8:20087373
(GRCh37)
- Canonical SPDI:
- NC_000008.11:20229861:A:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.00003/8
(TOPMED)
T=0.000156/1
(1000Genomes)
- HGVS: