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rs875989832

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs875989832(-;-)
Make rs875989832(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position6391860
GeneSMPD1
is asnp
is mentioned by
dbSNPrs875989832
ebirs875989832
HLIrs875989832
Exacrs875989832
Varsomers875989832
Maprs875989832
PheGenIrs875989832
hapmaprs875989832
1000 genomesrs875989832
hgdprs875989832
ensemblrs875989832
gopubmedrs875989832
geneviewrs875989832
scholarrs875989832
googlers875989832
pharmgkbrs875989832
gwascentralrs875989832
openSNPrs875989832
23andMers875989832
23andMe allrs875989832
SNP Nexus

SNPshotrs875989832
SNPdbers875989832
MSV3drs875989832
GWAS Ctlgrs875989832
Max Magnitude0
ClinVar
Risk rs875989832(;)
Alt rs875989832(;)
Reference rs875989832(G;G)
Significance Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6413090delG
CLNSRC
CLNACC RCV000211485.1,