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rs587779408

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779408(A;A)
Make rs587779408(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position6391804
GeneSMPD1
is asnp
is mentioned by
dbSNPrs587779408
ebirs587779408
HLIrs587779408
Exacrs587779408
Varsomers587779408
Maprs587779408
PheGenIrs587779408
hapmaprs587779408
1000 genomesrs587779408
hgdprs587779408
ensemblrs587779408
gopubmedrs587779408
geneviewrs587779408
scholarrs587779408
googlers587779408
pharmgkbrs587779408
gwascentralrs587779408
openSNPrs587779408
23andMers587779408
23andMe allrs587779408
SNP Nexus

SNPshotrs587779408
SNPdbers587779408
MSV3drs587779408
GWAS Ctlgrs587779408
Max Magnitude0
ClinVar
Risk rs587779408(A;A)
Alt rs587779408(A;A)
Reference rs587779408(G;G)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 6 Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Ceroid lipofuscinosis neuronal 6 Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6413034G>A
CLNSRC
CLNACC RCV000087097.1, RCV000169278.1,