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rs875989837

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs875989837(A;A)
Make rs875989837(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position6392017
GeneSMPD1
is asnp
is mentioned by
dbSNPrs875989837
ebirs875989837
HLIrs875989837
Exacrs875989837
Varsomers875989837
Maprs875989837
PheGenIrs875989837
hapmaprs875989837
1000 genomesrs875989837
hgdprs875989837
ensemblrs875989837
gopubmedrs875989837
geneviewrs875989837
scholarrs875989837
googlers875989837
pharmgkbrs875989837
gwascentralrs875989837
openSNPrs875989837
23andMers875989837
23andMe allrs875989837
SNP Nexus

SNPshotrs875989837
SNPdbers875989837
MSV3drs875989837
GWAS Ctlgrs875989837
Max Magnitude0
ClinVar
Risk rs875989837(A;A)
Alt rs875989837(A;A)
Reference rs875989837(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.6413247G>A
CLNSRC
CLNACC RCV000211451.1,