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rs875989833

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs875989833(-;-)
Make rs875989833(-;T)
Make rs875989833(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position6391586
GeneSMPD1
is asnp
is mentioned by
dbSNPrs875989833
ebirs875989833
HLIrs875989833
Exacrs875989833
Varsomers875989833
Maprs875989833
PheGenIrs875989833
hapmaprs875989833
1000 genomesrs875989833
hgdprs875989833
ensemblrs875989833
gopubmedrs875989833
geneviewrs875989833
scholarrs875989833
googlers875989833
pharmgkbrs875989833
gwascentralrs875989833
openSNPrs875989833
23andMers875989833
23andMe allrs875989833
SNP Nexus

SNPshotrs875989833
SNPdbers875989833
MSV3drs875989833
GWAS Ctlgrs875989833
Max Magnitude0
ClinVar
Risk rs875989833(T;T)
Alt rs875989833(T;T)
Reference rs875989833(;)
Significance Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6412816_6412817insT
CLNSRC
CLNACC RCV000211528.1,