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rs747143343

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs747143343(A;G)
Make rs747143343(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position6393898
GeneSMPD1
is asnp
is mentioned by
dbSNPrs747143343
ebirs747143343
HLIrs747143343
Exacrs747143343
Varsomers747143343
Maprs747143343
PheGenIrs747143343
hapmaprs747143343
1000 genomesrs747143343
hgdprs747143343
ensemblrs747143343
gopubmedrs747143343
geneviewrs747143343
scholarrs747143343
googlers747143343
pharmgkbrs747143343
gwascentralrs747143343
openSNPrs747143343
23andMers747143343
23andMe allrs747143343
SNP Nexus

SNPshotrs747143343
SNPdbers747143343
MSV3drs747143343
GWAS Ctlgrs747143343
Max Magnitude0
ClinVar
Risk rs747143343(G;G)
Alt rs747143343(G;G)
Reference rs747143343(A;A)
Significance Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type B
Reversed 0
HGVS NC_000011.9:g.6415128A>G
CLNSRC
CLNACC RCV000214418.1,