rs372392424
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs372392424(C;T) |
Make rs372392424(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 4 |
Position | 523849 |
Gene | PIGG |
is a | snp |
is | mentioned by |
dbSNP | rs372392424 |
dbSNP (classic) | rs372392424 |
ClinGen | rs372392424 |
ebi | rs372392424 |
HLI | rs372392424 |
Exac | rs372392424 |
Gnomad | rs372392424 |
Varsome | rs372392424 |
LitVar | rs372392424 |
Map | rs372392424 |
PheGenI | rs372392424 |
Biobank | rs372392424 |
1000 genomes | rs372392424 |
hgdp | rs372392424 |
ensembl | rs372392424 |
geneview | rs372392424 |
scholar | rs372392424 |
rs372392424 | |
pharmgkb | rs372392424 |
gwascentral | rs372392424 |
openSNP | rs372392424 |
23andMe | rs372392424 |
SNPshot | rs372392424 |
SNPdbe | rs372392424 |
MSV3d | rs372392424 |
GWAS Ctlg | rs372392424 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs372392424(T;T) |
Alt | rs372392424(T;T) |
Reference | Rs372392424(C;C) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | PIGG |
CLNDBN | Mental retardation, autosomal recessive 53 |
Reversed | 0 |
HGVS | NC_000004.11:g.517638C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210937.1, |