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rs756302731

From SNPedia

Orientationplus
Make rs756302731(-;-)
Make rs756302731(-;TC)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88083076
GeneCEP290
is asnp
is mentioned by
dbSNPrs756302731
ClinGenrs756302731
ebirs756302731
HLIrs756302731
Exacrs756302731
Varsomers756302731
Maprs756302731
PheGenIrs756302731
hapmaprs756302731
1000 genomesrs756302731
hgdprs756302731
ensemblrs756302731
gopubmedrs756302731
geneviewrs756302731
scholarrs756302731
googlers756302731
pharmgkbrs756302731
gwascentralrs756302731
openSNPrs756302731
23andMers756302731
23andMe allrs756302731
SNP Nexus

SNPshotrs756302731
SNPdbers756302731
MSV3drs756302731
GWAS Ctlgrs756302731
Max Magnitude
ClinVar
Risk
Alt
Reference Rs756302731(TC;TC)
Significance Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5
Reversed 0
HGVS NC_000012.11:g.88476853_88476854delTC
CLNSRC
CLNACC RCV000201538.1,