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rs768675259

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CA;CA) 0 common in clinvar
(I;I) 0 common genotype
Make rs768675259(-;-)
Make rs768675259(-;CA)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37170233
GeneC5orf42
is asnp
is mentioned by
dbSNPrs768675259
dbSNP (classic)rs768675259
ClinGenrs768675259
ebirs768675259
HLIrs768675259
Exacrs768675259
Gnomadrs768675259
Varsomers768675259
LitVarrs768675259
Maprs768675259
PheGenIrs768675259
Biobankrs768675259
1000 genomesrs768675259
hgdprs768675259
ensemblrs768675259
geneviewrs768675259
scholarrs768675259
googlers768675259
pharmgkbrs768675259
gwascentralrs768675259
openSNPrs768675259
23andMers768675259
SNPshotrs768675259
SNPdbers768675259
MSV3drs768675259
GWAS Ctlgrs768675259
Max Magnitude0
ClinVar
Risk rs768675259(-;-)
Alt rs768675259(-;-)
Reference Rs768675259(CA;CA)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 0
HGVS NC_000005.9:g.37170335_37170336delCA
CLNSRC
CLNACC RCV000201611.1,