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rs863225172

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225172(G;T)
Make rs863225172(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position15579967
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs863225172
ebirs863225172
HLIrs863225172
Exacrs863225172
Varsomers863225172
Maprs863225172
PheGenIrs863225172
hapmaprs863225172
1000 genomesrs863225172
hgdprs863225172
ensemblrs863225172
gopubmedrs863225172
geneviewrs863225172
scholarrs863225172
googlers863225172
pharmgkbrs863225172
gwascentralrs863225172
openSNPrs863225172
23andMers863225172
23andMe allrs863225172
SNP Nexus

SNPshotrs863225172
SNPdbers863225172
MSV3drs863225172
GWAS Ctlgrs863225172
Max Magnitude0
ClinVar
Risk rs863225172(T;T)
Alt rs863225172(T;T)
Reference rs863225172(G;G)
Significance Pathogenic
Disease Joubert syndrome 9
Variation info
Gene CC2D2A
CLNDBN Joubert syndrome 9
Reversed 0
HGVS NC_000004.11:g.15581590G>T
CLNSRC
CLNACC RCV000201649.1,