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rs386833761

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833761(-;-)
Make rs386833761(-;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position15587929
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs386833761
ebirs386833761
HLIrs386833761
Exacrs386833761
Varsomers386833761
Maprs386833761
PheGenIrs386833761
hapmaprs386833761
1000 genomesrs386833761
hgdprs386833761
ensemblrs386833761
gopubmedrs386833761
geneviewrs386833761
scholarrs386833761
googlers386833761
pharmgkbrs386833761
gwascentralrs386833761
openSNPrs386833761
23andMers386833761
23andMe allrs386833761
SNP Nexus

SNPshotrs386833761
SNPdbers386833761
MSV3drs386833761
GWAS Ctlgrs386833761
Max Magnitude0
ClinVar
Risk rs386833761(;)
Alt rs386833761(;)
Reference rs386833761(G;G)
Significance Pathogenic
Disease Meckel syndrome type 6 Joubert syndrome 9
Variation info
Gene CC2D2A
CLNDBN Meckel syndrome type 6 Joubert syndrome 9
Reversed 0
HGVS NC_000004.11:g.15589553delG
CLNSRC ClinVar
CLNACC RCV000049724.2, RCV000194003.2,


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