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rs1057517368

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517368(A;A)
Make rs1057517368(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position40097113
GenePPT1
is asnp
is mentioned by
dbSNPrs1057517368
dbSNP (old)rs1057517368
ClinGenrs1057517368
ebirs1057517368
HLIrs1057517368
Exacrs1057517368
Gnomadrs1057517368
Varsomers1057517368
Maprs1057517368
PheGenIrs1057517368
Biobankrs1057517368
1000 genomesrs1057517368
hgdprs1057517368
ensemblrs1057517368
gopubmedrs1057517368
geneviewrs1057517368
scholarrs1057517368
googlers1057517368
pharmgkbrs1057517368
gwascentralrs1057517368
openSNPrs1057517368
23andMers1057517368
23andMe allrs1057517368
SNPshotrs1057517368
SNPdbers1057517368
MSV3drs1057517368
GWAS Ctlgrs1057517368
Max Magnitude0
ClinVar
Risk rs1057517368(A;A)
Alt rs1057517368(A;A)
Reference Rs1057517368(T;T)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40562785A>T
CLNSRC
CLNACC RCV000410017.1,