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rs771336819

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs771336819(A;A)
Make rs771336819(A;T)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position6394209
GeneSMPD1
is asnp
is mentioned by
dbSNPrs771336819
ebirs771336819
HLIrs771336819
Exacrs771336819
Varsomers771336819
Maprs771336819
PheGenIrs771336819
hapmaprs771336819
1000 genomesrs771336819
hgdprs771336819
ensemblrs771336819
gopubmedrs771336819
geneviewrs771336819
scholarrs771336819
googlers771336819
pharmgkbrs771336819
gwascentralrs771336819
openSNPrs771336819
23andMers771336819
23andMe allrs771336819
SNP Nexus

SNPshotrs771336819
SNPdbers771336819
MSV3drs771336819
GWAS Ctlgrs771336819
Max Magnitude0
ClinVar
Risk rs771336819(A,C;A,C)
Alt rs771336819(A,C;A,C)
Reference rs771336819(T;T)
Significance Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6415439T>A
CLNSRC
CLNACC RCV000211503.1,