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rs386833746

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833746(A;A)
Make rs386833746(A;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position15533263
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs386833746
ebirs386833746
HLIrs386833746
Exacrs386833746
Varsomers386833746
Maprs386833746
PheGenIrs386833746
hapmaprs386833746
1000 genomesrs386833746
hgdprs386833746
ensemblrs386833746
gopubmedrs386833746
geneviewrs386833746
scholarrs386833746
googlers386833746
pharmgkbrs386833746
gwascentralrs386833746
openSNPrs386833746
23andMers386833746
23andMe allrs386833746
SNP Nexus

SNPshotrs386833746
SNPdbers386833746
MSV3drs386833746
GWAS Ctlgrs386833746
Max Magnitude0
ClinVar
Risk rs386833746(A;A)
Alt rs386833746(A;A)
Reference rs386833746(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.15534886T>A
CLNSRC ClinVar
CLNACC RCV000049710.1,


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