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rs398123456

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123456(A;A)
Make rs398123456(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position12649174
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs398123456
ebirs398123456
HLIrs398123456
Exacrs398123456
Varsomers398123456
Maprs398123456
PheGenIrs398123456
hapmaprs398123456
1000 genomesrs398123456
hgdprs398123456
ensemblrs398123456
gopubmedrs398123456
geneviewrs398123456
scholarrs398123456
googlers398123456
pharmgkbrs398123456
gwascentralrs398123456
openSNPrs398123456
23andMers398123456
23andMe allrs398123456
SNP Nexus

SNPshotrs398123456
SNPdbers398123456
MSV3drs398123456
GWAS Ctlgrs398123456
Max Magnitude0
ClinVar
Risk rs398123456(A,T;A,T)
Alt rs398123456(A,T;A,T)
Reference rs398123456(G;G)
Significance Pathogenic
Disease Deficiency of alpha-mannosidase not provided
Variation info
Gene MAN2B1
CLNDBN Deficiency of alpha-mannosidase not provided
Reversed 1
HGVS NC_000019.9:g.12759988C>A; NC_000019.9:g.12759988C>G; NC_000019.9:g.12759988C>T
CLNSRC ClinVar Emory University
CLNACC RCV000207017.1, RCV000206964.1, RCV000079076.4,