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rs771953225

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs771953225(C;T)
Make rs771953225(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12648174
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs771953225
dbSNP (classic)rs771953225
ClinGenrs771953225
ebirs771953225
HLIrs771953225
Exacrs771953225
Gnomadrs771953225
Varsomers771953225
LitVarrs771953225
Maprs771953225
PheGenIrs771953225
Biobankrs771953225
1000 genomesrs771953225
hgdprs771953225
ensemblrs771953225
geneviewrs771953225
scholarrs771953225
googlers771953225
pharmgkbrs771953225
gwascentralrs771953225
openSNPrs771953225
23andMers771953225
SNPshotrs771953225
SNPdbers771953225
MSV3drs771953225
GWAS Ctlgrs771953225
Max Magnitude0
ClinVar
Risk rs771953225(A;A) rs771953225(T;T)
Alt rs771953225(A;A) rs771953225(T;T)
Reference Rs771953225(C;C)
Significance Probable-Pathogenic
Disease Deficiency of alpha-mannosidase
Variation info
Gene MAN2B1
CLNDBN Deficiency of alpha-mannosidase
Reversed 0
HGVS NC_000019.9:g.12758988C>T
CLNSRC
CLNACC RCV000411824.1,