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rs863225199

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs863225199(-;-)
Make rs863225199(-;CA)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position136429712
GeneINPP5E
is asnp
is mentioned by
dbSNPrs863225199
dbSNP (old)rs863225199
ClinGenrs863225199
ebirs863225199
HLIrs863225199
Exacrs863225199
Gnomadrs863225199
Varsomers863225199
Maprs863225199
PheGenIrs863225199
Biobankrs863225199
1000 genomesrs863225199
hgdprs863225199
ensemblrs863225199
gopubmedrs863225199
geneviewrs863225199
scholarrs863225199
googlers863225199
pharmgkbrs863225199
gwascentralrs863225199
openSNPrs863225199
23andMers863225199
23andMe allrs863225199
SNP Nexus

SNPshotrs863225199
SNPdbers863225199
MSV3drs863225199
GWAS Ctlgrs863225199
Max Magnitude0
ClinVar
Risk rs863225199(-;-)
Alt rs863225199(-;-)
Reference Rs863225199(CA;CA)
Significance Pathogenic
Disease Joubert syndrome
Variation info
Gene INPP5E
CLNDBN Joubert syndrome
Reversed 1
HGVS NC_000009.11:g.139324164_139324165delTG
CLNSRC
CLNACC RCV000201717.1,