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rs386833749

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833749(-;-)
Make rs386833749(-;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position15563424
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs386833749
ebirs386833749
HLIrs386833749
Exacrs386833749
Varsomers386833749
Maprs386833749
PheGenIrs386833749
hapmaprs386833749
1000 genomesrs386833749
hgdprs386833749
ensemblrs386833749
gopubmedrs386833749
geneviewrs386833749
scholarrs386833749
googlers386833749
pharmgkbrs386833749
gwascentralrs386833749
openSNPrs386833749
23andMers386833749
23andMe allrs386833749
SNP Nexus

SNPshotrs386833749
SNPdbers386833749
MSV3drs386833749
GWAS Ctlgrs386833749
Max Magnitude0
ClinVar
Risk rs386833749(;)
Alt rs386833749(;)
Reference rs386833749(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.15565047delG
CLNSRC ClinVar
CLNACC RCV000049713.1,


[PMID 19466712OA-icon.png] Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?


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