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rs1057517192

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517192(-;-)
Make rs1057517192(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position40092448
GenePPT1
is asnp
is mentioned by
dbSNPrs1057517192
dbSNP (classic)rs1057517192
ClinGenrs1057517192
ebirs1057517192
HLIrs1057517192
Exacrs1057517192
Gnomadrs1057517192
Varsomers1057517192
LitVarrs1057517192
Maprs1057517192
PheGenIrs1057517192
Biobankrs1057517192
1000 genomesrs1057517192
hgdprs1057517192
ensemblrs1057517192
geneviewrs1057517192
scholarrs1057517192
googlers1057517192
pharmgkbrs1057517192
gwascentralrs1057517192
openSNPrs1057517192
23andMers1057517192
23andMe allrs1057517192
SNPshotrs1057517192
SNPdbers1057517192
MSV3drs1057517192
GWAS Ctlgrs1057517192
Max Magnitude0
ClinVar
Risk rs1057517192(-;-)
Alt rs1057517192(-;-)
Reference Rs1057517192(A;A)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40558120delT
CLNSRC
CLNACC RCV000411460.1,