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rs530569572

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs530569572(A;C)
Make rs530569572(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37226811
GeneC5orf42
is asnp
is mentioned by
dbSNPrs530569572
ebirs530569572
HLIrs530569572
Exacrs530569572
Varsomers530569572
Maprs530569572
PheGenIrs530569572
hapmaprs530569572
1000 genomesrs530569572
hgdprs530569572
ensemblrs530569572
gopubmedrs530569572
geneviewrs530569572
scholarrs530569572
googlers530569572
pharmgkbrs530569572
gwascentralrs530569572
openSNPrs530569572
23andMers530569572
23andMe allrs530569572
SNP Nexus

SNPshotrs530569572
SNPdbers530569572
MSV3drs530569572
GWAS Ctlgrs530569572
Max Magnitude0
ClinVar
Risk rs530569572(C;C)
Alt rs530569572(C;C)
Reference rs530569572(A;A)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 0
HGVS NC_000005.9:g.37226913A>C
CLNSRC
CLNACC RCV000201692.1,