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rs797044680

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044680(-;G)
Make rs797044680(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position12649169
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs797044680
ClinGenrs797044680
ebirs797044680
HLIrs797044680
Exacrs797044680
Varsomers797044680
Maprs797044680
PheGenIrs797044680
hapmaprs797044680
1000 genomesrs797044680
hgdprs797044680
ensemblrs797044680
gopubmedrs797044680
geneviewrs797044680
scholarrs797044680
googlers797044680
pharmgkbrs797044680
gwascentralrs797044680
openSNPrs797044680
23andMers797044680
23andMe allrs797044680
SNP Nexus

SNPshotrs797044680
SNPdbers797044680
MSV3drs797044680
GWAS Ctlgrs797044680
Max Magnitude0
ClinVar
Risk rs797044680(G;G)
Alt rs797044680(G;G)
Reference Rs797044680(-;-)
Significance Pathogenic
Disease Deficiency of alpha-mannosidase
Variation info
Gene MAN2B1
CLNDBN Deficiency of alpha-mannosidase
Reversed 1
HGVS NC_000019.9:g.12759984dupC
CLNSRC
CLNACC RCV000176041.1,