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rs875989835

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs875989835(-;-)
Make rs875989835(-;C)
Make rs875989835(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position6391630
GeneSMPD1
is asnp
is mentioned by
dbSNPrs875989835
ebirs875989835
HLIrs875989835
Exacrs875989835
Varsomers875989835
Maprs875989835
PheGenIrs875989835
hapmaprs875989835
1000 genomesrs875989835
hgdprs875989835
ensemblrs875989835
gopubmedrs875989835
geneviewrs875989835
scholarrs875989835
googlers875989835
pharmgkbrs875989835
gwascentralrs875989835
openSNPrs875989835
23andMers875989835
23andMe allrs875989835
SNP Nexus

SNPshotrs875989835
SNPdbers875989835
MSV3drs875989835
GWAS Ctlgrs875989835
Max Magnitude0
ClinVar
Risk rs875989835(C;C)
Alt rs875989835(C;C)
Reference rs875989835(;)
Significance Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6412860_6412861insC
CLNSRC
CLNACC RCV000211502.1,