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rs386833763

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833763(C;T)
Make rs386833763(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position15510217
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs386833763
ebirs386833763
HLIrs386833763
Exacrs386833763
Varsomers386833763
Maprs386833763
PheGenIrs386833763
hapmaprs386833763
1000 genomesrs386833763
hgdprs386833763
ensemblrs386833763
gopubmedrs386833763
geneviewrs386833763
scholarrs386833763
googlers386833763
pharmgkbrs386833763
gwascentralrs386833763
openSNPrs386833763
23andMers386833763
23andMe allrs386833763
SNP Nexus

SNPshotrs386833763
SNPdbers386833763
MSV3drs386833763
GWAS Ctlgrs386833763
Max Magnitude0
ClinVar
Risk rs386833763(T;T)
Alt rs386833763(T;T)
Reference rs386833763(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.15511840C>T
CLNSRC ClinVar
CLNACC RCV000049727.1,


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