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rs786204694

From SNPedia

Orientationplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs786204694(-;-)
Make rs786204694(-;TT)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position6391603
GeneSMPD1
is asnp
is mentioned by
dbSNPrs786204694
ebirs786204694
HLIrs786204694
Exacrs786204694
Varsomers786204694
Maprs786204694
PheGenIrs786204694
hapmaprs786204694
1000 genomesrs786204694
hgdprs786204694
ensemblrs786204694
gopubmedrs786204694
geneviewrs786204694
scholarrs786204694
googlers786204694
pharmgkbrs786204694
gwascentralrs786204694
openSNPrs786204694
23andMers786204694
23andMe allrs786204694
SNP Nexus

SNPshotrs786204694
SNPdbers786204694
MSV3drs786204694
GWAS Ctlgrs786204694
Max Magnitude0
ClinVar
Risk rs786204694(;)
Alt rs786204694(;)
Reference rs786204694(TT;TT)
Significance Probable-Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6412833_6412834delTT
CLNSRC
CLNACC RCV000169504.1,