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rs1057517112

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ATGGACC;ATGGACC) 0 common in clinvar
Make rs1057517112(-;-)
Make rs1057517112(-;ATGGACC)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position40097185
GenePPT1
is asnp
is mentioned by
dbSNPrs1057517112
dbSNP (old)rs1057517112
ClinGenrs1057517112
ebirs1057517112
HLIrs1057517112
Exacrs1057517112
Gnomadrs1057517112
Varsomers1057517112
Maprs1057517112
PheGenIrs1057517112
Biobankrs1057517112
1000 genomesrs1057517112
hgdprs1057517112
ensemblrs1057517112
gopubmedrs1057517112
geneviewrs1057517112
scholarrs1057517112
googlers1057517112
pharmgkbrs1057517112
gwascentralrs1057517112
openSNPrs1057517112
23andMers1057517112
23andMe allrs1057517112
SNPshotrs1057517112
SNPdbers1057517112
MSV3drs1057517112
GWAS Ctlgrs1057517112
Max Magnitude0
ClinVar
Risk rs1057517112(-;-)
Alt rs1057517112(-;-)
Reference Rs1057517112(ATGGACC;ATGGACC)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40562857_40562863delGGTCCAT
CLNSRC
CLNACC RCV000411788.1,