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rs267606709

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606709(C;T)
Make rs267606709(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position15567735
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs267606709
ebirs267606709
HLIrs267606709
Exacrs267606709
Varsomers267606709
Maprs267606709
PheGenIrs267606709
hapmaprs267606709
1000 genomesrs267606709
hgdprs267606709
ensemblrs267606709
gopubmedrs267606709
geneviewrs267606709
scholarrs267606709
googlers267606709
pharmgkbrs267606709
gwascentralrs267606709
openSNPrs267606709
23andMers267606709
23andMe allrs267606709
SNP Nexus

SNPshotrs267606709
SNPdbers267606709
MSV3drs267606709
GWAS Ctlgrs267606709
Max Magnitude0
ClinVar
Risk rs267606709(T;T)
Alt rs267606709(T;T)
Reference rs267606709(C;C)
Significance Pathogenic
Disease COACH syndrome Joubert syndrome 9
Variation info
Gene CC2D2A
CLNDBN COACH syndrome Joubert syndrome 9
Reversed 0
HGVS NC_000004.11:g.15569358C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000784.2, RCV000201781.1,