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rs386833754

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833754(-;-)
Make rs386833754(-;TG)
Make rs386833754(TG;TG)
ReferenceGRCh38 38.1/141
Chromosome4
Position15570424
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs386833754
ebirs386833754
HLIrs386833754
Exacrs386833754
Varsomers386833754
Maprs386833754
PheGenIrs386833754
hapmaprs386833754
1000 genomesrs386833754
hgdprs386833754
ensemblrs386833754
gopubmedrs386833754
geneviewrs386833754
scholarrs386833754
googlers386833754
pharmgkbrs386833754
gwascentralrs386833754
openSNPrs386833754
23andMers386833754
23andMe allrs386833754
SNP Nexus

SNPshotrs386833754
SNPdbers386833754
MSV3drs386833754
GWAS Ctlgrs386833754
Max Magnitude0
ClinVar
Risk rs386833754(TG;TG)
Alt rs386833754(TG;TG)
Reference rs386833754(;)
Significance Probable-Pathogenic
Disease Meckel syndrome type 6
Variation info
Gene CC2D2A
CLNDBN Meckel syndrome type 6
Reversed 0
HGVS NC_000004.11:g.15572047_15572048insTG
CLNSRC ClinVar
CLNACC RCV000049718.1,


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