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rs1057517694

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517694(A;A)
Make rs1057517694(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position78248290
GeneCEP78
is asnp
is mentioned by
dbSNPrs1057517694
dbSNP (old)rs1057517694
ClinGenrs1057517694
ebirs1057517694
HLIrs1057517694
Exacrs1057517694
Gnomadrs1057517694
Varsomers1057517694
Maprs1057517694
PheGenIrs1057517694
Biobankrs1057517694
1000 genomesrs1057517694
hgdprs1057517694
ensemblrs1057517694
gopubmedrs1057517694
geneviewrs1057517694
scholarrs1057517694
googlers1057517694
pharmgkbrs1057517694
gwascentralrs1057517694
openSNPrs1057517694
23andMers1057517694
23andMe allrs1057517694
SNPshotrs1057517694
SNPdbers1057517694
MSV3drs1057517694
GWAS Ctlgrs1057517694
Max Magnitude0
ClinVar
Risk rs1057517694(A;A)
Alt rs1057517694(A;A)
Reference Rs1057517694(G;G)
Significance Pathogenic
Disease Cone-rod dystrophy and hearing loss
Variation info
Gene CEP78
CLNDBN Cone-rod dystrophy and hearing loss
Reversed 0
HGVS NC_000009.11:g.80863206G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000412597.2,