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rs1057517049

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517049(-;ACTT)
Make rs1057517049(ACTT;ACTT)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position40092109
GenePPT1
is asnp
is mentioned by
dbSNPrs1057517049
dbSNP (old)rs1057517049
ClinGenrs1057517049
ebirs1057517049
HLIrs1057517049
Exacrs1057517049
Gnomadrs1057517049
Varsomers1057517049
Maprs1057517049
PheGenIrs1057517049
Biobankrs1057517049
1000 genomesrs1057517049
hgdprs1057517049
ensemblrs1057517049
gopubmedrs1057517049
geneviewrs1057517049
scholarrs1057517049
googlers1057517049
pharmgkbrs1057517049
gwascentralrs1057517049
openSNPrs1057517049
23andMers1057517049
23andMe allrs1057517049
SNPshotrs1057517049
SNPdbers1057517049
MSV3drs1057517049
GWAS Ctlgrs1057517049
Max Magnitude0
ClinVar
Risk rs1057517049(ACTT;ACTT)
Alt rs1057517049(ACTT;ACTT)
Reference Rs1057517049(-;-)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40557782_40557785dupAAGT
CLNSRC
CLNACC RCV000411589.1,