Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833748

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833748(C;T)
Make rs386833748(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position15557451
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs386833748
ebirs386833748
HLIrs386833748
Exacrs386833748
Varsomers386833748
Maprs386833748
PheGenIrs386833748
hapmaprs386833748
1000 genomesrs386833748
hgdprs386833748
ensemblrs386833748
gopubmedrs386833748
geneviewrs386833748
scholarrs386833748
googlers386833748
pharmgkbrs386833748
gwascentralrs386833748
openSNPrs386833748
23andMers386833748
23andMe allrs386833748
SNP Nexus

SNPshotrs386833748
SNPdbers386833748
MSV3drs386833748
GWAS Ctlgrs386833748
Max Magnitude0
ClinVar
Risk rs386833748(T;T)
Alt rs386833748(T;T)
Reference rs386833748(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.15559074C>T
CLNSRC ClinVar
CLNACC RCV000049712.1,


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