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rs1057517195

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517195(C;T)
Make rs1057517195(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6391622
GeneSMPD1
is asnp
is mentioned by
dbSNPrs1057517195
dbSNP (old)rs1057517195
ClinGenrs1057517195
ebirs1057517195
HLIrs1057517195
Exacrs1057517195
Gnomadrs1057517195
Varsomers1057517195
Maprs1057517195
PheGenIrs1057517195
Biobankrs1057517195
1000 genomesrs1057517195
hgdprs1057517195
ensemblrs1057517195
gopubmedrs1057517195
geneviewrs1057517195
scholarrs1057517195
googlers1057517195
pharmgkbrs1057517195
gwascentralrs1057517195
openSNPrs1057517195
23andMers1057517195
23andMe allrs1057517195
SNPshotrs1057517195
SNPdbers1057517195
MSV3drs1057517195
GWAS Ctlgrs1057517195
Max Magnitude0
ClinVar
Risk rs1057517195(T;T)
Alt rs1057517195(T;T)
Reference Rs1057517195(C;C)
Significance Probable-Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6412852C>T
CLNSRC
CLNACC RCV000411195.1,