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rs1057516867

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516867(-;-)
Make rs1057516867(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position1771101
GeneCLN8
is asnp
is mentioned by
dbSNPrs1057516867
dbSNP (old)rs1057516867
ClinGenrs1057516867
ebirs1057516867
HLIrs1057516867
Exacrs1057516867
Gnomadrs1057516867
Varsomers1057516867
Maprs1057516867
PheGenIrs1057516867
Biobankrs1057516867
1000 genomesrs1057516867
hgdprs1057516867
ensemblrs1057516867
gopubmedrs1057516867
geneviewrs1057516867
scholarrs1057516867
googlers1057516867
pharmgkbrs1057516867
gwascentralrs1057516867
openSNPrs1057516867
23andMers1057516867
23andMe allrs1057516867
SNPshotrs1057516867
SNPdbers1057516867
MSV3drs1057516867
GWAS Ctlgrs1057516867
Max Magnitude0
ClinVar
Risk rs1057516867(-;-)
Alt rs1057516867(-;-)
Reference Rs1057516867(T;T)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 8
Variation info
Gene CLN8
CLNDBN Ceroid lipofuscinosis neuronal 8
Reversed 0
HGVS NC_000008.10:g.1719267delT
CLNSRC
CLNACC RCV000409684.1,