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rs786204514

From SNPedia

Orientationplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs786204514(-;-)
Make rs786204514(-;CT)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position6393235
GeneSMPD1
is asnp
is mentioned by
dbSNPrs786204514
ebirs786204514
HLIrs786204514
Exacrs786204514
Varsomers786204514
Maprs786204514
PheGenIrs786204514
hapmaprs786204514
1000 genomesrs786204514
hgdprs786204514
ensemblrs786204514
gopubmedrs786204514
geneviewrs786204514
scholarrs786204514
googlers786204514
pharmgkbrs786204514
gwascentralrs786204514
openSNPrs786204514
23andMers786204514
23andMe allrs786204514
SNP Nexus

SNPshotrs786204514
SNPdbers786204514
MSV3drs786204514
GWAS Ctlgrs786204514
Max Magnitude0
ClinVar
Risk rs786204514(;)
Alt rs786204514(;)
Reference rs786204514(CT;CT)
Significance Probable-Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6414465_6414466delCT
CLNSRC
CLNACC RCV000169205.1,