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rs727504166

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727504166(C;C)
Make rs727504166(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position6391540
GeneSMPD1
is asnp
is mentioned by
dbSNPrs727504166
ebirs727504166
HLIrs727504166
Exacrs727504166
Varsomers727504166
Maprs727504166
PheGenIrs727504166
hapmaprs727504166
1000 genomesrs727504166
hgdprs727504166
ensemblrs727504166
gopubmedrs727504166
geneviewrs727504166
scholarrs727504166
googlers727504166
pharmgkbrs727504166
gwascentralrs727504166
openSNPrs727504166
23andMers727504166
23andMe allrs727504166
SNP Nexus

SNPshotrs727504166
SNPdbers727504166
MSV3drs727504166
GWAS Ctlgrs727504166
Max Magnitude0
ClinVar
Risk rs727504166(C;C)
Alt rs727504166(C;C)
Reference rs727504166(T;T)
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.6412770T>C
CLNSRC HGMD
CLNACC RCV000153979.3, RCV000153980.3,