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rs386833750

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833750(C;G)
Make rs386833750(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position15563485
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs386833750
ebirs386833750
HLIrs386833750
Exacrs386833750
Varsomers386833750
Maprs386833750
PheGenIrs386833750
hapmaprs386833750
1000 genomesrs386833750
hgdprs386833750
ensemblrs386833750
gopubmedrs386833750
geneviewrs386833750
scholarrs386833750
googlers386833750
pharmgkbrs386833750
gwascentralrs386833750
openSNPrs386833750
23andMers386833750
23andMe allrs386833750
SNP Nexus

SNPshotrs386833750
SNPdbers386833750
MSV3drs386833750
GWAS Ctlgrs386833750
Max Magnitude0
ClinVar
Risk rs386833750(A,G,T;A,G,T)
Alt rs386833750(A,G,T;A,G,T)
Reference rs386833750(C;C)
Significance Pathogenic
Disease Meckel syndrome type 6 COACH syndrome Joubert syndrome 9/15 Familial aplasia of the vermis
Variation info
Gene CC2D2A
CLNDBN Meckel syndrome type 6 COACH syndrome Joubert syndrome 9/15, digenic Familial aplasia of the vermis
Reversed 0
HGVS NC_000004.11:g.15565108C>G; NC_000004.11:g.15565108C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000049714.1, RCV000000783.2, RCV000023922.2, RCV000199602.1,


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