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rs1057516582

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516582(-;-)
Make rs1057516582(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position1771317
GeneCLN8
is asnp
is mentioned by
dbSNPrs1057516582
dbSNP (old)rs1057516582
ClinGenrs1057516582
ebirs1057516582
HLIrs1057516582
Exacrs1057516582
Gnomadrs1057516582
Varsomers1057516582
LitVarrs1057516582
Maprs1057516582
PheGenIrs1057516582
Biobankrs1057516582
1000 genomesrs1057516582
hgdprs1057516582
ensemblrs1057516582
gopubmedrs1057516582
geneviewrs1057516582
scholarrs1057516582
googlers1057516582
pharmgkbrs1057516582
gwascentralrs1057516582
openSNPrs1057516582
23andMers1057516582
23andMe allrs1057516582
SNPshotrs1057516582
SNPdbers1057516582
MSV3drs1057516582
GWAS Ctlgrs1057516582
Max Magnitude0
ClinVar
Risk rs1057516582(-;-)
Alt rs1057516582(-;-)
Reference Rs1057516582(A;A)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 8
Variation info
Gene CLN8
CLNDBN Ceroid lipofuscinosis neuronal 8
Reversed 0
HGVS NC_000008.10:g.1719483delA
CLNSRC
CLNACC RCV000410063.1,