rs267607195
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs267607195(A;A) |
Make rs267607195(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 4911908 |
Gene | KCNA1 |
is a | snp |
is | mentioned by |
dbSNP | rs267607195 |
dbSNP (classic) | rs267607195 |
ClinGen | rs267607195 |
ebi | rs267607195 |
HLI | rs267607195 |
Exac | rs267607195 |
Gnomad | rs267607195 |
Varsome | rs267607195 |
LitVar | rs267607195 |
Map | rs267607195 |
PheGenI | rs267607195 |
Biobank | rs267607195 |
1000 genomes | rs267607195 |
hgdp | rs267607195 |
ensembl | rs267607195 |
geneview | rs267607195 |
scholar | rs267607195 |
rs267607195 | |
pharmgkb | rs267607195 |
gwascentral | rs267607195 |
openSNP | rs267607195 |
23andMe | rs267607195 |
SNPshot | rs267607195 |
SNPdbe | rs267607195 |
MSV3d | rs267607195 |
GWAS Ctlg | rs267607195 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607195(A;A) |
Alt | rs267607195(A;A) |
Reference | Rs267607195(T;T) |
Significance | Pathogenic |
Disease | Episodic ataxia type 1 |
Variation | info |
Gene | KCNA1 |
CLNDBN | Episodic ataxia type 1 |
Reversed | 0 |
HGVS | NC_000012.11:g.5021074T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014432.25, |