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rs749439750

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs749439750(A;A)
Make rs749439750(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88084768
GeneCEP290
is asnp
is mentioned by
dbSNPrs749439750
ebirs749439750
HLIrs749439750
Exacrs749439750
Varsomers749439750
Maprs749439750
PheGenIrs749439750
hapmaprs749439750
1000 genomesrs749439750
hgdprs749439750
ensemblrs749439750
gopubmedrs749439750
geneviewrs749439750
scholarrs749439750
googlers749439750
pharmgkbrs749439750
gwascentralrs749439750
openSNPrs749439750
23andMers749439750
23andMe allrs749439750
SNP Nexus

SNPshotrs749439750
SNPdbers749439750
MSV3drs749439750
GWAS Ctlgrs749439750
Max Magnitude0
ClinVar
Risk rs749439750(A;A)
Alt rs749439750(A;A)
Reference rs749439750(G;G)
Significance Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5
Reversed 0
HGVS NC_000012.11:g.88478545G>A
CLNSRC
CLNACC RCV000201597.1,