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rs587777653

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777653(A;A)
Make rs587777653(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position74168485
GeneC2CD3
is asnp
is mentioned by
dbSNPrs587777653
ebirs587777653
HLIrs587777653
Exacrs587777653
Varsomers587777653
Maprs587777653
PheGenIrs587777653
hapmaprs587777653
1000 genomesrs587777653
hgdprs587777653
ensemblrs587777653
gopubmedrs587777653
geneviewrs587777653
scholarrs587777653
googlers587777653
pharmgkbrs587777653
gwascentralrs587777653
openSNPrs587777653
23andMers587777653
23andMe allrs587777653
SNP Nexus

SNPshotrs587777653
SNPdbers587777653
MSV3drs587777653
GWAS Ctlgrs587777653
Max Magnitude0
ClinVar
Risk rs587777653(A;A)
Alt rs587777653(A;A)
Reference rs587777653(G;G)
Significance Pathogenic
Disease Orofaciodigital syndrome xiv Joubert syndrome
Variation info
Gene C2CD3
CLNDBN Orofaciodigital syndrome xiv Joubert syndrome
Reversed 0
HGVS NC_000011.9:g.73879530G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000133545.3, RCV000201616.1,