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rs875989834

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACCGTGTGTACCA;ACCGTGTGTACCA) 0 common in clinvar
Make rs875989834(-;-)
Make rs875989834(-;CCGTGTGTACCAA)
Make rs875989834(CCGTGTGTACCAA;CCGTGTGTACCAA)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position6394202
GeneSMPD1
is asnp
is mentioned by
dbSNPrs875989834
dbSNP (old)rs875989834
ClinGenrs875989834
ebirs875989834
HLIrs875989834
Exacrs875989834
Varsomers875989834
Maprs875989834
PheGenIrs875989834
Biobankrs875989834
1000 genomesrs875989834
hgdprs875989834
ensemblrs875989834
gopubmedrs875989834
geneviewrs875989834
scholarrs875989834
googlers875989834
pharmgkbrs875989834
gwascentralrs875989834
openSNPrs875989834
23andMers875989834
23andMe allrs875989834
SNP Nexus

SNPshotrs875989834
SNPdbers875989834
MSV3drs875989834
GWAS Ctlgrs875989834
Max Magnitude0
ClinVar
Risk rs875989834(-;-)
Alt rs875989834(-;-)
Reference Rs875989834(ACCGTGTGTACCA;ACCGTGTGTACCA)
Significance Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6415432_6415444delCCGTGTGTACCAA
CLNSRC
CLNACC RCV000211462.1,