rs80338961
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs80338961(A;T) |
Make rs80338961(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 63941799 |
Gene | SCN4A |
is a | snp |
is | mentioned by |
dbSNP | rs80338961 |
dbSNP (classic) | rs80338961 |
ClinGen | rs80338961 |
ebi | rs80338961 |
HLI | rs80338961 |
Exac | rs80338961 |
Gnomad | rs80338961 |
Varsome | rs80338961 |
LitVar | rs80338961 |
Map | rs80338961 |
PheGenI | rs80338961 |
Biobank | rs80338961 |
1000 genomes | rs80338961 |
hgdp | rs80338961 |
ensembl | rs80338961 |
geneview | rs80338961 |
scholar | rs80338961 |
rs80338961 | |
pharmgkb | rs80338961 |
gwascentral | rs80338961 |
openSNP | rs80338961 |
23andMe | rs80338961 |
SNPshot | rs80338961 |
SNPdbe | rs80338961 |
MSV3d | rs80338961 |
GWAS Ctlg | rs80338961 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80338961(T;T) |
Alt | rs80338961(T;T) |
Reference | Rs80338961(A;A) |
Significance | Pathogenic |
Disease | Hyperkalemic Periodic Paralysis Type 1 |
Variation | info |
Gene | SCN4A |
CLNDBN | Hyperkalemic Periodic Paralysis Type 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.62019159T>A |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020278.2, |