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rs786205067

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs786205067(-;AACG)
Make rs786205067(AACG;AACG)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position68214315
GeneCLN6
is asnp
is mentioned by
dbSNPrs786205067
dbSNP (classic)rs786205067
ClinGenrs786205067
ebirs786205067
HLIrs786205067
Exacrs786205067
Gnomadrs786205067
Varsomers786205067
LitVarrs786205067
Maprs786205067
PheGenIrs786205067
Biobankrs786205067
1000 genomesrs786205067
hgdprs786205067
ensemblrs786205067
geneviewrs786205067
scholarrs786205067
googlers786205067
pharmgkbrs786205067
gwascentralrs786205067
openSNPrs786205067
23andMers786205067
SNPshotrs786205067
SNPdbers786205067
MSV3drs786205067
GWAS Ctlgrs786205067
Max Magnitude0
ClinVar
Risk rs786205067(AACG;AACG)
Alt rs786205067(AACG;AACG)
Reference Rs786205067(-;-)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 6
Variation info
Gene CLN6
CLNDBN Ceroid lipofuscinosis neuronal 6
Reversed 1
HGVS NC_000015.9:g.68506654_68506657dupCGTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000004301.5,