rs28934600
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs28934600(A;T) |
Make rs28934600(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 12665756 |
Gene | MAN2B1, WDR83 |
is a | snp |
is | mentioned by |
dbSNP | rs28934600 |
dbSNP (classic) | rs28934600 |
ClinGen | rs28934600 |
ebi | rs28934600 |
HLI | rs28934600 |
Exac | rs28934600 |
Gnomad | rs28934600 |
Varsome | rs28934600 |
LitVar | rs28934600 |
Map | rs28934600 |
PheGenI | rs28934600 |
Biobank | rs28934600 |
1000 genomes | rs28934600 |
hgdp | rs28934600 |
ensembl | rs28934600 |
geneview | rs28934600 |
scholar | rs28934600 |
rs28934600 | |
pharmgkb | rs28934600 |
gwascentral | rs28934600 |
openSNP | rs28934600 |
23andMe | rs28934600 |
SNPshot | rs28934600 |
SNPdbe | rs28934600 |
MSV3d | rs28934600 |
GWAS Ctlg | rs28934600 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28934600(T;T) |
Alt | rs28934600(T;T) |
Reference | Rs28934600(A;A) |
Significance | Pathogenic |
Disease | Deficiency of alpha-mannosidase |
Variation | info |
Gene | WDR83 MAN2B1 |
CLNDBN | Deficiency of alpha-mannosidase |
Reversed | 1 |
HGVS | NC_000019.9:g.12776570T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001752.1, |