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rs386833760

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833760(-;-)
Make rs386833760(-;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position15587930
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs386833760
ebirs386833760
HLIrs386833760
Exacrs386833760
Varsomers386833760
Maprs386833760
PheGenIrs386833760
hapmaprs386833760
1000 genomesrs386833760
hgdprs386833760
ensemblrs386833760
gopubmedrs386833760
geneviewrs386833760
scholarrs386833760
googlers386833760
pharmgkbrs386833760
gwascentralrs386833760
openSNPrs386833760
23andMers386833760
23andMe allrs386833760
SNP Nexus

SNPshotrs386833760
SNPdbers386833760
MSV3drs386833760
GWAS Ctlgrs386833760
Max Magnitude0
ClinVar
Risk rs386833760(;)
Alt rs386833760(;)
Reference rs386833760(G;G)
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.15589553delG
CLNSRC ClinVar
CLNACC RCV000049724.2, RCV000194003.2,


[PMID 19777577OA-icon.png] CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.