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rs386833762

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833762(A;A)
Make rs386833762(A;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position15597467
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs386833762
ebirs386833762
HLIrs386833762
Exacrs386833762
Varsomers386833762
Maprs386833762
PheGenIrs386833762
hapmaprs386833762
1000 genomesrs386833762
hgdprs386833762
ensemblrs386833762
gopubmedrs386833762
geneviewrs386833762
scholarrs386833762
googlers386833762
pharmgkbrs386833762
gwascentralrs386833762
openSNPrs386833762
23andMers386833762
23andMe allrs386833762
SNP Nexus

SNPshotrs386833762
SNPdbers386833762
MSV3drs386833762
GWAS Ctlgrs386833762
Max Magnitude0
ClinVar
Risk rs386833762(A,C;A,C)
Alt rs386833762(A,C;A,C)
Reference rs386833762(T;T)
Significance Probable-Pathogenic
Disease Meckel syndrome type 6
Variation info
Gene CC2D2A
CLNDBN Meckel syndrome type 6
Reversed 0
HGVS NC_000004.11:g.15599090T>A
CLNSRC ClinVar
CLNACC RCV000049726.1,


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