Have questions? Visit https://www.reddit.com/r/SNPedia

rs120074128

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs120074128(A;A)
Make rs120074128(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position6391945
GeneSMPD1
is asnp
is mentioned by
dbSNPrs120074128
ebirs120074128
HLIrs120074128
Exacrs120074128
Varsomers120074128
Maprs120074128
PheGenIrs120074128
hapmaprs120074128
1000 genomesrs120074128
hgdprs120074128
ensemblrs120074128
gopubmedrs120074128
geneviewrs120074128
scholarrs120074128
googlers120074128
pharmgkbrs120074128
gwascentralrs120074128
openSNPrs120074128
23andMers120074128
23andMe allrs120074128
SNP Nexus

SNPshotrs120074128
SNPdbers120074128
MSV3drs120074128
GWAS Ctlgrs120074128
Max Magnitude0
OMIM607608
Desc
Variant0015
Relatedalso
ClinVar
Risk rs120074128(A;A)
Alt rs120074128(A;A)
Reference rs120074128(C;C)
Significance Pathogenic
Disease Niemann-Pick disease Niemann-pick disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type B Niemann-pick disease, intermediate, protracted neurovisceral Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6413175C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003128.2, RCV000003129.2, RCV000169297.1,