rs767323371
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs767323371(G;T) |
Make rs767323371(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 12647567 |
Gene | MAN2B1 |
is a | snp |
is | mentioned by |
dbSNP | rs767323371 |
dbSNP (classic) | rs767323371 |
ClinGen | rs767323371 |
ebi | rs767323371 |
HLI | rs767323371 |
Exac | rs767323371 |
Gnomad | rs767323371 |
Varsome | rs767323371 |
LitVar | rs767323371 |
Map | rs767323371 |
PheGenI | rs767323371 |
Biobank | rs767323371 |
1000 genomes | rs767323371 |
hgdp | rs767323371 |
ensembl | rs767323371 |
geneview | rs767323371 |
scholar | rs767323371 |
rs767323371 | |
pharmgkb | rs767323371 |
gwascentral | rs767323371 |
openSNP | rs767323371 |
23andMe | rs767323371 |
SNPshot | rs767323371 |
SNPdbe | rs767323371 |
MSV3d | rs767323371 |
GWAS Ctlg | rs767323371 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs767323371(T;T) |
Alt | rs767323371(T;T) |
Reference | Rs767323371(G;G) |
Significance | Probable-Pathogenic |
Disease | Deficiency of alpha-mannosidase |
Variation | info |
Gene | MAN2B1 |
CLNDBN | Deficiency of alpha-mannosidase |
Reversed | 0 |
HGVS | NC_000019.9:g.12758381G>T |
CLNSRC | |
CLNACC | RCV000411220.1, |