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rs386833753

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833753(A;A)
Make rs386833753(A;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position15569290
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs386833753
ebirs386833753
HLIrs386833753
Exacrs386833753
Varsomers386833753
Maprs386833753
PheGenIrs386833753
hapmaprs386833753
1000 genomesrs386833753
hgdprs386833753
ensemblrs386833753
gopubmedrs386833753
geneviewrs386833753
scholarrs386833753
googlers386833753
pharmgkbrs386833753
gwascentralrs386833753
openSNPrs386833753
23andMers386833753
23andMe allrs386833753
SNP Nexus

SNPshotrs386833753
SNPdbers386833753
MSV3drs386833753
GWAS Ctlgrs386833753
Max Magnitude0
ClinVar
Risk rs386833753(A;A)
Alt rs386833753(A;A)
Reference rs386833753(C;C)
Significance Probable-Pathogenic
Disease Meckel syndrome type 6
Variation info
Gene CC2D2A
CLNDBN Meckel syndrome type 6
Reversed 0
HGVS NC_000004.11:g.15570913C>A
CLNSRC ClinVar
CLNACC RCV000049717.1,


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