rs202160208
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs202160208(C;T) |
Make rs202160208(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 49722056 |
Gene | GMPPB |
is a | snp |
is | mentioned by |
dbSNP | rs202160208 |
dbSNP (classic) | rs202160208 |
ClinGen | rs202160208 |
ebi | rs202160208 |
HLI | rs202160208 |
Exac | rs202160208 |
Gnomad | rs202160208 |
Varsome | rs202160208 |
LitVar | rs202160208 |
Map | rs202160208 |
PheGenI | rs202160208 |
Biobank | rs202160208 |
1000 genomes | rs202160208 |
hgdp | rs202160208 |
ensembl | rs202160208 |
geneview | rs202160208 |
scholar | rs202160208 |
rs202160208 | |
pharmgkb | rs202160208 |
gwascentral | rs202160208 |
openSNP | rs202160208 |
23andMe | rs202160208 |
SNPshot | rs202160208 |
SNPdbe | rs202160208 |
MSV3d | rs202160208 |
GWAS Ctlg | rs202160208 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202160208(T;T) |
Alt | rs202160208(T;T) |
Reference | Rs202160208(C;C) |
Significance | Pathogenic |
Disease | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation) Muscular dystrophy-dystroglycanopathy (limb-girdle) |
Variation | info |
Gene | GMPPB |
CLNDBN | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 |
Reversed | 0 |
HGVS | NC_000003.11:g.49759489C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000054439.3, RCV000209893.1, |