rs527236148
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs527236148(A;A) |
Make rs527236148(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 63971201 |
Gene | SCN4A |
is a | snp |
is | mentioned by |
dbSNP | rs527236148 |
dbSNP (classic) | rs527236148 |
ClinGen | rs527236148 |
ebi | rs527236148 |
HLI | rs527236148 |
Exac | rs527236148 |
Gnomad | rs527236148 |
Varsome | rs527236148 |
LitVar | rs527236148 |
Map | rs527236148 |
PheGenI | rs527236148 |
Biobank | rs527236148 |
1000 genomes | rs527236148 |
hgdp | rs527236148 |
ensembl | rs527236148 |
geneview | rs527236148 |
scholar | rs527236148 |
rs527236148 | |
pharmgkb | rs527236148 |
gwascentral | rs527236148 |
openSNP | rs527236148 |
23andMe | rs527236148 |
SNPshot | rs527236148 |
SNPdbe | rs527236148 |
MSV3d | rs527236148 |
GWAS Ctlg | rs527236148 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs527236148(A;A) |
Alt | rs527236148(A;A) |
Reference | Rs527236148(G;G) |
Significance | Pathogenic |
Disease | Hypokalemic periodic paralysis |
Variation | info |
Gene | SCN4A |
CLNDBN | Hypokalemic periodic paralysis, type 2 |
Reversed | 0 |
HGVS | NC_000017.10:g.62048561G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000132735.2, |