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rs781252161

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs781252161(C;T)
Make rs781252161(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position15533284
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs781252161
ebirs781252161
HLIrs781252161
Exacrs781252161
Varsomers781252161
Maprs781252161
PheGenIrs781252161
hapmaprs781252161
1000 genomesrs781252161
hgdprs781252161
ensemblrs781252161
gopubmedrs781252161
geneviewrs781252161
scholarrs781252161
googlers781252161
pharmgkbrs781252161
gwascentralrs781252161
openSNPrs781252161
23andMers781252161
23andMe allrs781252161
SNP Nexus

SNPshotrs781252161
SNPdbers781252161
MSV3drs781252161
GWAS Ctlgrs781252161
Max Magnitude0
ClinVar
Risk rs781252161(T;T)
Alt rs781252161(T;T)
Reference rs781252161(C;C)
Significance Pathogenic
Disease Joubert syndrome 9
Variation info
Gene CC2D2A
CLNDBN Joubert syndrome 9
Reversed 0
HGVS NC_000004.11:g.15534907C>T
CLNSRC
CLNACC RCV000201589.1,