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rs386833756

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833756(-;-)
Make rs386833756(-;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position15570486
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs386833756
ebirs386833756
HLIrs386833756
Exacrs386833756
Varsomers386833756
Maprs386833756
PheGenIrs386833756
hapmaprs386833756
1000 genomesrs386833756
hgdprs386833756
ensemblrs386833756
gopubmedrs386833756
geneviewrs386833756
scholarrs386833756
googlers386833756
pharmgkbrs386833756
gwascentralrs386833756
openSNPrs386833756
23andMers386833756
23andMe allrs386833756
SNP Nexus

SNPshotrs386833756
SNPdbers386833756
MSV3drs386833756
GWAS Ctlgrs386833756
Max Magnitude0
ClinVar
Risk rs386833756(;)
Alt rs386833756(;)
Reference rs386833756(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.15572109delT
CLNSRC ClinVar
CLNACC RCV000049720.1,


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