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rs386833752

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833752(C;T)
Make rs386833752(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position15567729
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs386833752
ebirs386833752
HLIrs386833752
Exacrs386833752
Varsomers386833752
Maprs386833752
PheGenIrs386833752
hapmaprs386833752
1000 genomesrs386833752
hgdprs386833752
ensemblrs386833752
gopubmedrs386833752
geneviewrs386833752
scholarrs386833752
googlers386833752
pharmgkbrs386833752
gwascentralrs386833752
openSNPrs386833752
23andMers386833752
23andMe allrs386833752
SNP Nexus

SNPshotrs386833752
SNPdbers386833752
MSV3drs386833752
GWAS Ctlgrs386833752
Max Magnitude0
ClinVar
Risk rs386833752(T;T)
Alt rs386833752(T;T)
Reference rs386833752(C;C)
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.15569352C>T
CLNSRC ClinVar
CLNACC RCV000049716.1, RCV000201581.1,


[PMID 19466712OA-icon.png] Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?