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rs786204715

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204715(A;A)
Make rs786204715(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position12658428
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs786204715
ebirs786204715
HLIrs786204715
Exacrs786204715
Varsomers786204715
Maprs786204715
PheGenIrs786204715
hapmaprs786204715
1000 genomesrs786204715
hgdprs786204715
ensemblrs786204715
gopubmedrs786204715
geneviewrs786204715
scholarrs786204715
googlers786204715
pharmgkbrs786204715
gwascentralrs786204715
openSNPrs786204715
23andMers786204715
23andMe allrs786204715
SNP Nexus

SNPshotrs786204715
SNPdbers786204715
MSV3drs786204715
GWAS Ctlgrs786204715
Max Magnitude0
ClinVar
Risk rs786204715(A;A)
Alt rs786204715(A;A)
Reference rs786204715(G;G)
Significance Probable-Pathogenic
Disease Deficiency of alpha-mannosidase
Variation info
Gene MAN2B1
CLNDBN Deficiency of alpha-mannosidase
Reversed 1
HGVS NC_000019.9:g.12769242C>T
CLNSRC
CLNACC RCV000169531.1,