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rs727504167

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727504167(-;-)
Make rs727504167(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position6391638
GeneSMPD1
is asnp
is mentioned by
dbSNPrs727504167
ebirs727504167
HLIrs727504167
Exacrs727504167
Varsomers727504167
Maprs727504167
PheGenIrs727504167
hapmaprs727504167
1000 genomesrs727504167
hgdprs727504167
ensemblrs727504167
gopubmedrs727504167
geneviewrs727504167
scholarrs727504167
googlers727504167
pharmgkbrs727504167
gwascentralrs727504167
openSNPrs727504167
23andMers727504167
23andMe allrs727504167
SNP Nexus

SNPshotrs727504167
SNPdbers727504167
MSV3drs727504167
GWAS Ctlgrs727504167
Max Magnitude0
ClinVar
Risk rs727504167(;)
Alt rs727504167(;)
Reference rs727504167(T;T)
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.6412868delT
CLNSRC HGMD
CLNACC RCV000153981.2, RCV000175623.1,