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rs863225175

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTCT;CTCT) 0 common in clinvar
Make rs863225175(-;-)
Make rs863225175(-;TCTC)
Make rs863225175(TCTC;TCTC)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position15601405
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs863225175
ClinGenrs863225175
ebirs863225175
HLIrs863225175
Exacrs863225175
Varsomers863225175
Maprs863225175
PheGenIrs863225175
hapmaprs863225175
1000 genomesrs863225175
hgdprs863225175
ensemblrs863225175
gopubmedrs863225175
geneviewrs863225175
scholarrs863225175
googlers863225175
pharmgkbrs863225175
gwascentralrs863225175
openSNPrs863225175
23andMers863225175
23andMe allrs863225175
SNP Nexus

SNPshotrs863225175
SNPdbers863225175
MSV3drs863225175
GWAS Ctlgrs863225175
Max Magnitude0
ClinVar
Risk rs863225175(-;-) Rs863225175(CTCT;CTCT)
Alt rs863225175(-;-) Rs863225175(CTCT;CTCT)
Reference rs863225175(TCTC;TCTC)
Significance Pathogenic
Disease Joubert syndrome 9
Variation info
Gene CC2D2A
CLNDBN Joubert syndrome 9
Reversed 0
HGVS NC_000004.11:g.15603028_15603031delTCTC
CLNSRC
CLNACC RCV000201615.1,