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rs863225154

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225154(A;A)
Make rs863225154(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37122429
GeneC5orf42
is asnp
is mentioned by
dbSNPrs863225154
ebirs863225154
HLIrs863225154
Exacrs863225154
Varsomers863225154
Maprs863225154
PheGenIrs863225154
hapmaprs863225154
1000 genomesrs863225154
hgdprs863225154
ensemblrs863225154
gopubmedrs863225154
geneviewrs863225154
scholarrs863225154
googlers863225154
pharmgkbrs863225154
gwascentralrs863225154
openSNPrs863225154
23andMers863225154
23andMe allrs863225154
SNP Nexus

SNPshotrs863225154
SNPdbers863225154
MSV3drs863225154
GWAS Ctlgrs863225154
Max Magnitude0
ClinVar
Risk rs863225154(A,T;A,T)
Alt rs863225154(A,T;A,T)
Reference rs863225154(G;G)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 1
HGVS NC_000005.9:g.37122531C>A; NC_000005.9:g.37122531C>T
CLNSRC
CLNACC RCV000201749.1, RCV000201659.1,