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rs606231259

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs606231259(-;-)
Make rs606231259(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37244452
GeneC5orf42
is asnp
is mentioned by
dbSNPrs606231259
ebirs606231259
HLIrs606231259
Exacrs606231259
Varsomers606231259
Maprs606231259
PheGenIrs606231259
hapmaprs606231259
1000 genomesrs606231259
hgdprs606231259
ensemblrs606231259
gopubmedrs606231259
geneviewrs606231259
scholarrs606231259
googlers606231259
pharmgkbrs606231259
gwascentralrs606231259
openSNPrs606231259
23andMers606231259
23andMe allrs606231259
SNP Nexus

SNPshotrs606231259
SNPdbers606231259
MSV3drs606231259
GWAS Ctlgrs606231259
Max Magnitude0
ClinVar
Risk rs606231259(;)
Alt rs606231259(;)
Reference rs606231259(A;A)
Significance Pathogenic
Disease Orofaciodigital syndrome 6 Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Orofaciodigital syndrome 6 Joubert syndrome 17
Reversed 1
HGVS NC_000005.9:g.37244554delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000144858.3, RCV000193986.2,