Have questions? Visit https://www.reddit.com/r/SNPedia

rs756366019

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs756366019(-;-)
Make rs756366019(-;T)
Make rs756366019(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position6391623
GeneSMPD1
is asnp
is mentioned by
dbSNPrs756366019
ebirs756366019
HLIrs756366019
Exacrs756366019
Varsomers756366019
Maprs756366019
PheGenIrs756366019
hapmaprs756366019
1000 genomesrs756366019
hgdprs756366019
ensemblrs756366019
gopubmedrs756366019
geneviewrs756366019
scholarrs756366019
googlers756366019
pharmgkbrs756366019
gwascentralrs756366019
openSNPrs756366019
23andMers756366019
23andMe allrs756366019
SNP Nexus

SNPshotrs756366019
SNPdbers756366019
MSV3drs756366019
GWAS Ctlgrs756366019
Max Magnitude0
ClinVar
Risk rs756366019(GC,GT;GC,GT)
Alt rs756366019(GC,GT;GC,GT)
Reference rs756366019(G;G)
Significance Pathogenic
Disease Niemann-Pick disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A Niemann-Pick disease, type B
Reversed 0
HGVS NC_000011.9:g.6412853_6412854insT
CLNSRC
CLNACC RCV000175628.1, RCV000175629.1,