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rs797044604

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044604(G;T)
Make rs797044604(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88086450
GeneCEP290
is asnp
is mentioned by
dbSNPrs797044604
ebirs797044604
HLIrs797044604
Exacrs797044604
Varsomers797044604
Maprs797044604
PheGenIrs797044604
hapmaprs797044604
1000 genomesrs797044604
hgdprs797044604
ensemblrs797044604
gopubmedrs797044604
geneviewrs797044604
scholarrs797044604
googlers797044604
pharmgkbrs797044604
gwascentralrs797044604
openSNPrs797044604
23andMers797044604
23andMe allrs797044604
SNP Nexus

SNPshotrs797044604
SNPdbers797044604
MSV3drs797044604
GWAS Ctlgrs797044604
Max Magnitude0
ClinVar
Risk rs797044604(T;T)
Alt rs797044604(T;T)
Reference rs797044604(G;G)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome type 4 Senior-Loken syndrome 6
Variation info
Gene CEP290
CLNDBN Bardet-Biedl syndrome Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome type 4 Senior-Loken syndrome 6
Reversed 1
HGVS NC_000012.11:g.88480227C>A
CLNSRC
CLNACC RCV000192446.1,