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rs786204506

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204506(A;A)
Make rs786204506(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position6390694
GeneSMPD1
is asnp
is mentioned by
dbSNPrs786204506
ebirs786204506
HLIrs786204506
Exacrs786204506
Varsomers786204506
Maprs786204506
PheGenIrs786204506
hapmaprs786204506
1000 genomesrs786204506
hgdprs786204506
ensemblrs786204506
gopubmedrs786204506
geneviewrs786204506
scholarrs786204506
googlers786204506
pharmgkbrs786204506
gwascentralrs786204506
openSNPrs786204506
23andMers786204506
23andMe allrs786204506
SNP Nexus

SNPshotrs786204506
SNPdbers786204506
MSV3drs786204506
GWAS Ctlgrs786204506
Max Magnitude0
ClinVar
Risk rs786204506(A;A)
Alt rs786204506(A;A)
Reference rs786204506(G;G)
Significance Probable-Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6411924G>A
CLNSRC
CLNACC RCV000169189.1,