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rs764719093

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs764719093(C;T)
Make rs764719093(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position15557361
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs764719093
ebirs764719093
HLIrs764719093
Exacrs764719093
Varsomers764719093
Maprs764719093
PheGenIrs764719093
hapmaprs764719093
1000 genomesrs764719093
hgdprs764719093
ensemblrs764719093
gopubmedrs764719093
geneviewrs764719093
scholarrs764719093
googlers764719093
pharmgkbrs764719093
gwascentralrs764719093
openSNPrs764719093
23andMers764719093
23andMe allrs764719093
SNP Nexus

SNPshotrs764719093
SNPdbers764719093
MSV3drs764719093
GWAS Ctlgrs764719093
Max Magnitude0
ClinVar
Risk rs764719093(A,T;A,T)
Alt rs764719093(A,T;A,T)
Reference rs764719093(C;C)
Significance Pathogenic
Disease Joubert syndrome 9
Variation info
Gene CC2D2A
CLNDBN Joubert syndrome 9
Reversed 0
HGVS NC_000004.11:g.15558984C>T
CLNSRC
CLNACC RCV000194720.1,