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rs281860677

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281860677(-;-)
Make rs281860677(-;TCCCCGCA)
Make rs281860677(TCCCCGCA;TCCCCGCA)
ReferenceGRCh38 38.1/141
Chromosome11
Position6391914
GeneSMPD1
is asnp
is mentioned by
dbSNPrs281860677
ebirs281860677
HLIrs281860677
Exacrs281860677
Varsomers281860677
Maprs281860677
PheGenIrs281860677
hapmaprs281860677
1000 genomesrs281860677
hgdprs281860677
ensemblrs281860677
gopubmedrs281860677
geneviewrs281860677
scholarrs281860677
googlers281860677
pharmgkbrs281860677
gwascentralrs281860677
openSNPrs281860677
23andMers281860677
23andMe allrs281860677
SNP Nexus

SNPshotrs281860677
SNPdbers281860677
MSV3drs281860677
GWAS Ctlgrs281860677
Max Magnitude0
ClinVar
Risk rs281860677(CATCCCCG;CATCCCCG)
Alt rs281860677(CATCCCCG;CATCCCCG)
Reference rs281860677(;)
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.6413137_6413144dupTCCCCGCA
CLNSRC ClinVar
CLNACC RCV000079199.3, RCV000175627.1,