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rs386833747

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833747(C;C)
Make rs386833747(C;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position15553306
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs386833747
ebirs386833747
HLIrs386833747
Exacrs386833747
Varsomers386833747
Maprs386833747
PheGenIrs386833747
hapmaprs386833747
1000 genomesrs386833747
hgdprs386833747
ensemblrs386833747
gopubmedrs386833747
geneviewrs386833747
scholarrs386833747
googlers386833747
pharmgkbrs386833747
gwascentralrs386833747
openSNPrs386833747
23andMers386833747
23andMe allrs386833747
SNP Nexus

SNPshotrs386833747
SNPdbers386833747
MSV3drs386833747
GWAS Ctlgrs386833747
Max Magnitude0
ClinVar
Risk rs386833747(C;C)
Alt rs386833747(C;C)
Reference rs386833747(G;G)
Significance Probable-Pathogenic
Disease Meckel syndrome type 6
Variation info
Gene CC2D2A
CLNDBN Meckel syndrome type 6
Reversed 0
HGVS NC_000004.11:g.15554929G>C
CLNSRC ClinVar
CLNACC RCV000049711.1,


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