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rs863225157

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs863225157(-;-)
Make rs863225157(-;AT)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37198737
GeneC5orf42
is asnp
is mentioned by
dbSNPrs863225157
dbSNP (old)rs863225157
ClinGenrs863225157
ebirs863225157
HLIrs863225157
Exacrs863225157
Gnomadrs863225157
Varsomers863225157
Maprs863225157
PheGenIrs863225157
Biobankrs863225157
1000 genomesrs863225157
hgdprs863225157
ensemblrs863225157
gopubmedrs863225157
geneviewrs863225157
scholarrs863225157
googlers863225157
pharmgkbrs863225157
gwascentralrs863225157
openSNPrs863225157
23andMers863225157
23andMe allrs863225157
SNP Nexus

SNPshotrs863225157
SNPdbers863225157
MSV3drs863225157
GWAS Ctlgrs863225157
Max Magnitude0
ClinVar
Risk rs863225157(-;-)
Alt rs863225157(-;-)
Reference Rs863225157(AT;AT)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 1
HGVS NC_000005.9:g.37198839_37198840delAT
CLNSRC
CLNACC RCV000201678.1,