rs112543062
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs112543062(C;C) |
Make rs112543062(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 12 |
Position | 101770161 |
Gene | GNPTAB |
is a | snp |
is | mentioned by |
dbSNP | rs112543062 |
dbSNP (classic) | rs112543062 |
ClinGen | rs112543062 |
ebi | rs112543062 |
HLI | rs112543062 |
Exac | rs112543062 |
Gnomad | rs112543062 |
Varsome | rs112543062 |
LitVar | rs112543062 |
Map | rs112543062 |
PheGenI | rs112543062 |
Biobank | rs112543062 |
1000 genomes | rs112543062 |
hgdp | rs112543062 |
ensembl | rs112543062 |
geneview | rs112543062 |
scholar | rs112543062 |
rs112543062 | |
pharmgkb | rs112543062 |
gwascentral | rs112543062 |
openSNP | rs112543062 |
23andMe | rs112543062 |
SNPshot | rs112543062 |
SNPdbe | rs112543062 |
MSV3d | rs112543062 |
GWAS Ctlg | rs112543062 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs112543062(C;C) rs112543062(G;G) |
Alt | rs112543062(C;C) rs112543062(G;G) |
Reference | Rs112543062(T;T) |
Significance | Probable-Pathogenic |
Disease | not specified I cell disease Pseudo-Hurler polydystrophy |
Variation | info |
Gene | GNPTAB |
CLNDBN | not specified I cell disease Pseudo-Hurler polydystrophy |
Reversed | 0 |
HGVS | NC_000012.11:g.102163939T>G |
CLNSRC | |
CLNACC | RCV000173897.1, RCV000449633.1, |