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rs746645358

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs746645358(A;A)
Make rs746645358(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position1780415
GeneCLN8
is asnp
is mentioned by
dbSNPrs746645358
dbSNP (classic)rs746645358
ClinGenrs746645358
ebirs746645358
HLIrs746645358
Exacrs746645358
Gnomadrs746645358
Varsomers746645358
LitVarrs746645358
Maprs746645358
PheGenIrs746645358
Biobankrs746645358
1000 genomesrs746645358
hgdprs746645358
ensemblrs746645358
geneviewrs746645358
scholarrs746645358
googlers746645358
pharmgkbrs746645358
gwascentralrs746645358
openSNPrs746645358
23andMers746645358
SNPshotrs746645358
SNPdbers746645358
MSV3drs746645358
GWAS Ctlgrs746645358
Max Magnitude0
ClinVar
Risk rs746645358(A;A)
Alt rs746645358(A;A)
Reference Rs746645358(G;G)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 8 not provided
Variation info
Gene CLN8
CLNDBN Ceroid lipofuscinosis neuronal 8 not provided
Reversed 0
HGVS NC_000008.10:g.1728581G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000169279.1, RCV000187126.2,