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rs863225180

From SNPedia

Merged intors386833759
Orientationplus
Stabilizedplus
Geno Mag Summary
(AGTA;AGTA) 0 common in clinvar
Make rs863225180(-;-)
Make rs863225180(-;AGTA)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position15580175
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs863225180
dbSNP (old)rs863225180
ClinGenrs863225180
ebirs863225180
HLIrs863225180
Exacrs863225180
Gnomadrs863225180
Varsomers863225180
Maprs863225180
PheGenIrs863225180
Biobankrs863225180
1000 genomesrs863225180
hgdprs863225180
ensemblrs863225180
gopubmedrs863225180
geneviewrs863225180
scholarrs863225180
googlers863225180
pharmgkbrs863225180
gwascentralrs863225180
openSNPrs863225180
23andMers863225180
23andMe allrs863225180
SNP Nexus

SNPshotrs863225180
SNPdbers863225180
MSV3drs863225180
GWAS Ctlgrs863225180
StatusMerged into rs386833759
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs863225180(AGTA;AGTA)
Significance Pathogenic
Disease Meckel syndrome type 6 Joubert syndrome 9
Variation info
Gene CC2D2A
CLNDBN Meckel syndrome type 6 Joubert syndrome 9
Reversed 0
HGVS NC_000004.11:g.15581798_15581801delAGTA
CLNSRC
CLNACC RCV000049723.1, RCV000201729.1,