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rs1057516889

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516889(-;A)
Make rs1057516889(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position40078632
GenePPT1
is asnp
is mentioned by
dbSNPrs1057516889
dbSNP (old)rs1057516889
ClinGenrs1057516889
ebirs1057516889
HLIrs1057516889
Exacrs1057516889
Gnomadrs1057516889
Varsomers1057516889
Maprs1057516889
PheGenIrs1057516889
Biobankrs1057516889
1000 genomesrs1057516889
hgdprs1057516889
ensemblrs1057516889
gopubmedrs1057516889
geneviewrs1057516889
scholarrs1057516889
googlers1057516889
pharmgkbrs1057516889
gwascentralrs1057516889
openSNPrs1057516889
23andMers1057516889
23andMe allrs1057516889
SNPshotrs1057516889
SNPdbers1057516889
MSV3drs1057516889
GWAS Ctlgrs1057516889
Max Magnitude0
ClinVar
Risk rs1057516889(A;A)
Alt rs1057516889(A;A)
Reference Rs1057516889(-;-)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40544305dupT
CLNSRC
CLNACC RCV000411709.1,