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rs386833759

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGTA;AGTA) 0 common in clinvar
Make rs386833759(-;-)
Make rs386833759(-;AGTA)
ReferenceGRCh38 38.1/141
Chromosome4
Position15580171
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs386833759
ebirs386833759
HLIrs386833759
Exacrs386833759
Varsomers386833759
Maprs386833759
PheGenIrs386833759
hapmaprs386833759
1000 genomesrs386833759
hgdprs386833759
ensemblrs386833759
gopubmedrs386833759
geneviewrs386833759
scholarrs386833759
googlers386833759
pharmgkbrs386833759
gwascentralrs386833759
openSNPrs386833759
23andMers386833759
23andMe allrs386833759
SNP Nexus

SNPshotrs386833759
SNPdbers386833759
MSV3drs386833759
GWAS Ctlgrs386833759
Max Magnitude0
ClinVar
Risk rs386833759(;)
Alt rs386833759(;)
Reference rs386833759(AGTA;AGTA)
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.15581798_15581801delAGTA
CLNSRC ClinVar
CLNACC RCV000049723.1, RCV000201729.1,


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