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rs774543080

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs774543080(-;-)
Make rs774543080(-;AG)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position68211765
GeneCLN6
is asnp
is mentioned by
dbSNPrs774543080
dbSNP (classic)rs774543080
ClinGenrs774543080
ebirs774543080
HLIrs774543080
Exacrs774543080
Gnomadrs774543080
Varsomers774543080
LitVarrs774543080
Maprs774543080
PheGenIrs774543080
Biobankrs774543080
1000 genomesrs774543080
hgdprs774543080
ensemblrs774543080
geneviewrs774543080
scholarrs774543080
googlers774543080
pharmgkbrs774543080
gwascentralrs774543080
openSNPrs774543080
23andMers774543080
SNPshotrs774543080
SNPdbers774543080
MSV3drs774543080
GWAS Ctlgrs774543080
Max Magnitude0
ClinVar
Risk rs774543080(-;-)
Alt rs774543080(-;-)
Reference Rs774543080(AG;AG)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 6 not provided Neuronal ceroid lipofuscinosis
Variation info
Gene CLN6
CLNDBN Ceroid lipofuscinosis neuronal 6 not provided Neuronal ceroid lipofuscinosis
Reversed 0
HGVS NC_000015.9:g.68504103_68504104delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000004297.4, RCV000187113.2, RCV000465745.1,