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rs386833751

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833751(-;-)
Make rs386833751(-;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position15567677
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs386833751
ebirs386833751
HLIrs386833751
Exacrs386833751
Varsomers386833751
Maprs386833751
PheGenIrs386833751
hapmaprs386833751
1000 genomesrs386833751
hgdprs386833751
ensemblrs386833751
gopubmedrs386833751
geneviewrs386833751
scholarrs386833751
googlers386833751
pharmgkbrs386833751
gwascentralrs386833751
openSNPrs386833751
23andMers386833751
23andMe allrs386833751
SNP Nexus

SNPshotrs386833751
SNPdbers386833751
MSV3drs386833751
GWAS Ctlgrs386833751
Max Magnitude0
ClinVar
Risk rs386833751(;)
Alt rs386833751(;)
Reference rs386833751(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.15569300delG
CLNSRC ClinVar
CLNACC RCV000049715.1, RCV000201550.1,


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