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rs1057517390

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTGT;CTGT) 0 common in clinvar
Make rs1057517390(-;-)
Make rs1057517390(-;TCTG)
Make rs1057517390(TCTG;TCTG)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6393652
GeneSMPD1
is asnp
is mentioned by
dbSNPrs1057517390
dbSNP (classic)rs1057517390
ClinGenrs1057517390
ebirs1057517390
HLIrs1057517390
Exacrs1057517390
Gnomadrs1057517390
Varsomers1057517390
LitVarrs1057517390
Maprs1057517390
PheGenIrs1057517390
Biobankrs1057517390
1000 genomesrs1057517390
hgdprs1057517390
ensemblrs1057517390
geneviewrs1057517390
scholarrs1057517390
googlers1057517390
pharmgkbrs1057517390
gwascentralrs1057517390
openSNPrs1057517390
23andMers1057517390
23andMe allrs1057517390
SNPshotrs1057517390
SNPdbers1057517390
MSV3drs1057517390
GWAS Ctlgrs1057517390
Max Magnitude0
ClinVar
Risk rs1057517390(-;-)
Alt rs1057517390(-;-)
Reference Rs1057517390(CTGT;CTGT)
Significance Probable-Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6414882_6414885delTCTG
CLNSRC
CLNACC RCV000409661.1,