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rs387907058

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907058(A;C)
Make rs387907058(C;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position15596110
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs387907058
ebirs387907058
HLIrs387907058
Exacrs387907058
Varsomers387907058
Maprs387907058
PheGenIrs387907058
hapmaprs387907058
1000 genomesrs387907058
hgdprs387907058
ensemblrs387907058
gopubmedrs387907058
geneviewrs387907058
scholarrs387907058
googlers387907058
pharmgkbrs387907058
gwascentralrs387907058
openSNPrs387907058
23andMers387907058
23andMe allrs387907058
SNP Nexus

SNPshotrs387907058
SNPdbers387907058
MSV3drs387907058
GWAS Ctlgrs387907058
Max Magnitude0
ClinVar
Risk rs387907058(C;C)
Alt rs387907058(C;C)
Reference rs387907058(A;A)
Significance Pathogenic
Disease Joubert syndrome 9/15
Variation info
Gene CC2D2A
CLNDBN Joubert syndrome 9/15, digenic
Reversed 0
HGVS NC_000004.11:g.15597733A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023923.2,