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rs756267448

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs756267448(G;T)
Make rs756267448(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position1771598
GeneCLN8
is asnp
is mentioned by
dbSNPrs756267448
dbSNP (classic)rs756267448
ClinGenrs756267448
ebirs756267448
HLIrs756267448
Exacrs756267448
Gnomadrs756267448
Varsomers756267448
LitVarrs756267448
Maprs756267448
PheGenIrs756267448
Biobankrs756267448
1000 genomesrs756267448
hgdprs756267448
ensemblrs756267448
geneviewrs756267448
scholarrs756267448
googlers756267448
pharmgkbrs756267448
gwascentralrs756267448
openSNPrs756267448
23andMers756267448
SNPshotrs756267448
SNPdbers756267448
MSV3drs756267448
GWAS Ctlgrs756267448
Max Magnitude0
ClinVar
Risk rs756267448(T;T)
Alt rs756267448(T;T)
Reference Rs756267448(G;G)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 8
Variation info
Gene CLN8
CLNDBN Ceroid lipofuscinosis neuronal 8
Reversed 0
HGVS NC_000008.10:g.1719764G>T
CLNSRC
CLNACC RCV000410670.1,