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rs863225164

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225164(A;A)
Make rs863225164(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37221361
GeneC5orf42
is asnp
is mentioned by
dbSNPrs863225164
ebirs863225164
HLIrs863225164
Exacrs863225164
Varsomers863225164
Maprs863225164
PheGenIrs863225164
hapmaprs863225164
1000 genomesrs863225164
hgdprs863225164
ensemblrs863225164
gopubmedrs863225164
geneviewrs863225164
scholarrs863225164
googlers863225164
pharmgkbrs863225164
gwascentralrs863225164
openSNPrs863225164
23andMers863225164
23andMe allrs863225164
SNP Nexus

SNPshotrs863225164
SNPdbers863225164
MSV3drs863225164
GWAS Ctlgrs863225164
Max Magnitude0
ClinVar
Risk rs863225164(A;A)
Alt rs863225164(A;A)
Reference rs863225164(G;G)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 1
HGVS NC_000005.9:g.37221463C>T
CLNSRC
CLNACC RCV000201748.1,