rs771953225
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs771953225(C;T) |
Make rs771953225(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 12648174 |
Gene | MAN2B1 |
is a | snp |
is | mentioned by |
dbSNP | rs771953225 |
dbSNP (classic) | rs771953225 |
ClinGen | rs771953225 |
ebi | rs771953225 |
HLI | rs771953225 |
Exac | rs771953225 |
Gnomad | rs771953225 |
Varsome | rs771953225 |
LitVar | rs771953225 |
Map | rs771953225 |
PheGenI | rs771953225 |
Biobank | rs771953225 |
1000 genomes | rs771953225 |
hgdp | rs771953225 |
ensembl | rs771953225 |
geneview | rs771953225 |
scholar | rs771953225 |
rs771953225 | |
pharmgkb | rs771953225 |
gwascentral | rs771953225 |
openSNP | rs771953225 |
23andMe | rs771953225 |
SNPshot | rs771953225 |
SNPdbe | rs771953225 |
MSV3d | rs771953225 |
GWAS Ctlg | rs771953225 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs771953225(A;A) rs771953225(T;T) |
Alt | rs771953225(A;A) rs771953225(T;T) |
Reference | Rs771953225(C;C) |
Significance | Probable-Pathogenic |
Disease | Deficiency of alpha-mannosidase |
Variation | info |
Gene | MAN2B1 |
CLNDBN | Deficiency of alpha-mannosidase |
Reversed | 0 |
HGVS | NC_000019.9:g.12758988C>T |
CLNSRC | |
CLNACC | RCV000411824.1, |