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rs767323371

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs767323371(G;T)
Make rs767323371(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12647567
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs767323371
dbSNP (classic)rs767323371
ClinGenrs767323371
ebirs767323371
HLIrs767323371
Exacrs767323371
Gnomadrs767323371
Varsomers767323371
LitVarrs767323371
Maprs767323371
PheGenIrs767323371
Biobankrs767323371
1000 genomesrs767323371
hgdprs767323371
ensemblrs767323371
geneviewrs767323371
scholarrs767323371
googlers767323371
pharmgkbrs767323371
gwascentralrs767323371
openSNPrs767323371
23andMers767323371
SNPshotrs767323371
SNPdbers767323371
MSV3drs767323371
GWAS Ctlgrs767323371
Max Magnitude0
ClinVar
Risk rs767323371(T;T)
Alt rs767323371(T;T)
Reference Rs767323371(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.12758381G>T
CLNSRC
CLNACC RCV000411220.1,