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rs386833745

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833745(-;-)
Make rs386833745(-;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position15527636
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs386833745
ebirs386833745
HLIrs386833745
Exacrs386833745
Varsomers386833745
Maprs386833745
PheGenIrs386833745
hapmaprs386833745
1000 genomesrs386833745
hgdprs386833745
ensemblrs386833745
gopubmedrs386833745
geneviewrs386833745
scholarrs386833745
googlers386833745
pharmgkbrs386833745
gwascentralrs386833745
openSNPrs386833745
23andMers386833745
23andMe allrs386833745
SNP Nexus

SNPshotrs386833745
SNPdbers386833745
MSV3drs386833745
GWAS Ctlgrs386833745
Max Magnitude0
ClinVar
Risk rs386833745(;)
Alt rs386833745(;)
Reference rs386833745(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.15529259delG
CLNSRC ClinVar
CLNACC RCV000049709.1,


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