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rs727504165

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727504165(-;-)
Make rs727504165(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position6391419
GeneSMPD1
is asnp
is mentioned by
dbSNPrs727504165
ebirs727504165
HLIrs727504165
Exacrs727504165
Varsomers727504165
Maprs727504165
PheGenIrs727504165
hapmaprs727504165
1000 genomesrs727504165
hgdprs727504165
ensemblrs727504165
gopubmedrs727504165
geneviewrs727504165
scholarrs727504165
googlers727504165
pharmgkbrs727504165
gwascentralrs727504165
openSNPrs727504165
23andMers727504165
23andMe allrs727504165
SNP Nexus

SNPshotrs727504165
SNPdbers727504165
MSV3drs727504165
GWAS Ctlgrs727504165
Max Magnitude0
ClinVar
Risk rs727504165(;)
Alt rs727504165(;)
Reference rs727504165(C;C)
Significance Pathogenic
Disease not provided Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN not provided Niemann-Pick disease, type B
Reversed 0
HGVS NC_000011.9:g.6412649delC
CLNSRC
CLNACC RCV000153978.2, RCV000175624.1,