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rs386833765

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833765(-;-)
Make rs386833765(-;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position15514823
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs386833765
ebirs386833765
HLIrs386833765
Exacrs386833765
Varsomers386833765
Maprs386833765
PheGenIrs386833765
hapmaprs386833765
1000 genomesrs386833765
hgdprs386833765
ensemblrs386833765
gopubmedrs386833765
geneviewrs386833765
scholarrs386833765
googlers386833765
pharmgkbrs386833765
gwascentralrs386833765
openSNPrs386833765
23andMers386833765
23andMe allrs386833765
SNP Nexus

SNPshotrs386833765
SNPdbers386833765
MSV3drs386833765
GWAS Ctlgrs386833765
Max Magnitude0
ClinVar
Risk rs386833765(;)
Alt rs386833765(;)
Reference rs386833765(G;G)
Significance Probable-Pathogenic
Disease Meckel syndrome type 6
Variation info
Gene CC2D2A
CLNDBN Meckel syndrome type 6
Reversed 0
HGVS NC_000004.11:g.15516446delG
CLNSRC ClinVar
CLNACC RCV000049729.1,


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