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rs762998472

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs762998472(-;GGCATGTTTTGGCAGCGA)
Make rs762998472(GGCATGTTTTGGCAGCGA;GGCATGTTTTGGCAGCGA)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position15527560
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs762998472
dbSNP (old)rs762998472
ClinGenrs762998472
ebirs762998472
HLIrs762998472
Exacrs762998472
Varsomers762998472
Maprs762998472
PheGenIrs762998472
Biobankrs762998472
1000 genomesrs762998472
hgdprs762998472
ensemblrs762998472
gopubmedrs762998472
geneviewrs762998472
scholarrs762998472
googlers762998472
pharmgkbrs762998472
gwascentralrs762998472
openSNPrs762998472
23andMers762998472
23andMe allrs762998472
SNP Nexus

SNPshotrs762998472
SNPdbers762998472
MSV3drs762998472
GWAS Ctlgrs762998472
Max Magnitude0
ClinVar
Risk rs762998472(GGCATGTTTTGGC;GGCATGTTTTGGC) rs762998472(GGCATGTTTTGGCAGCGA;GGCATGTTTTGGCAGCGA)
Alt rs762998472(GGCATGTTTTGGC;GGCATGTTTTGGC) rs762998472(GGCATGTTTTGGCAGCGA;GGCATGTTTTGGCAGCGA)
Reference Rs762998472(-;-)
Significance Pathogenic
Disease Joubert syndrome 9
Variation info
Gene CC2D2A
CLNDBN Joubert syndrome 9
Reversed 0
HGVS NC_000004.11:g.15529183_15529184insGGCATGTTTTGGCAGCGA
CLNSRC
CLNACC RCV000201658.1,