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rs1050239

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1050239(A;A)
Make rs1050239(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position6394233
GeneSMPD1
is asnp
is mentioned by
dbSNPrs1050239
ebirs1050239
HLIrs1050239
Exacrs1050239
Varsomers1050239
Maprs1050239
PheGenIrs1050239
hapmaprs1050239
1000 genomesrs1050239
hgdprs1050239
ensemblrs1050239
gopubmedrs1050239
geneviewrs1050239
scholarrs1050239
googlers1050239
pharmgkbrs1050239
gwascentralrs1050239
openSNPrs1050239
23andMers1050239
23andMe allrs1050239
SNP Nexus

SNPshotrs1050239
SNPdbers1050239
MSV3drs1050239
GWAS Ctlgrs1050239
GMAF0.18
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene SMPD1
allele A
frequency
sift TOLERATED
HuRef 1103649597786
Disease Association Defects in SMPD1 are the cause of Niemann-Pick disease type B (NPB) (MIM:607616); also referred to as the visceral form. NPB has little if any neurologic involvement and patients may survive into adulthood.



GET Evidence
SMPD1-G508R
aa_change Gly508Arg
aa_change_short G508R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.199572
summary



ClinVar
Risk rs1050239(A;A)
Alt rs1050239(A;A)
Reference rs1050239(G;G)
Significance Non-pathogenic
Disease not specified Sphingomyelin/cholesterol lipidosis
Variation info
Gene SMPD1
CLNDBN not specified Sphingomyelin/cholesterol lipidosis
Reversed 0
HGVS NC_000011.9:g.6415463G>A; NC_000011.9:g.6415463G>C
CLNSRC ClinVar Emory University
CLNACC RCV000079195.4, RCV000192218.1,