rs527236150
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs527236150(C;T) |
Make rs527236150(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 63947082 |
Gene | SCN4A |
is a | snp |
is | mentioned by |
dbSNP | rs527236150 |
dbSNP (classic) | rs527236150 |
ClinGen | rs527236150 |
ebi | rs527236150 |
HLI | rs527236150 |
Exac | rs527236150 |
Gnomad | rs527236150 |
Varsome | rs527236150 |
LitVar | rs527236150 |
Map | rs527236150 |
PheGenI | rs527236150 |
Biobank | rs527236150 |
1000 genomes | rs527236150 |
hgdp | rs527236150 |
ensembl | rs527236150 |
geneview | rs527236150 |
scholar | rs527236150 |
rs527236150 | |
pharmgkb | rs527236150 |
gwascentral | rs527236150 |
openSNP | rs527236150 |
23andMe | rs527236150 |
SNPshot | rs527236150 |
SNPdbe | rs527236150 |
MSV3d | rs527236150 |
GWAS Ctlg | rs527236150 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs527236150(T;T) |
Alt | rs527236150(T;T) |
Reference | Rs527236150(C;C) |
Significance | Pathogenic |
Disease | Hypokalemic periodic paralysis not provided |
Variation | info |
Gene | SCN4A |
CLNDBN | Hypokalemic periodic paralysis, type 2 not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.62024442C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000132737.2, RCV000254971.1, |