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rs775200333

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs775200333(A;A)
Make rs775200333(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position12657482
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs775200333
ebirs775200333
HLIrs775200333
Exacrs775200333
Varsomers775200333
Maprs775200333
PheGenIrs775200333
hapmaprs775200333
1000 genomesrs775200333
hgdprs775200333
ensemblrs775200333
gopubmedrs775200333
geneviewrs775200333
scholarrs775200333
googlers775200333
pharmgkbrs775200333
gwascentralrs775200333
openSNPrs775200333
23andMers775200333
23andMe allrs775200333
SNP Nexus

SNPshotrs775200333
SNPdbers775200333
MSV3drs775200333
GWAS Ctlgrs775200333
Max Magnitude0
ClinVar
Risk rs775200333(A,C,T;A,C,T)
Alt rs775200333(A,C,T;A,C,T)
Reference rs775200333(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.12768296G>C
CLNSRC
CLNACC RCV000169471.1,