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rs1057517693

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517693(A;A)
Make rs1057517693(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position78240369
GeneCEP78
is asnp
is mentioned by
dbSNPrs1057517693
dbSNP (old)rs1057517693
ClinGenrs1057517693
ebirs1057517693
HLIrs1057517693
Exacrs1057517693
Gnomadrs1057517693
Varsomers1057517693
Maprs1057517693
PheGenIrs1057517693
Biobankrs1057517693
1000 genomesrs1057517693
hgdprs1057517693
ensemblrs1057517693
gopubmedrs1057517693
geneviewrs1057517693
scholarrs1057517693
googlers1057517693
pharmgkbrs1057517693
gwascentralrs1057517693
openSNPrs1057517693
23andMers1057517693
23andMe allrs1057517693
SNPshotrs1057517693
SNPdbers1057517693
MSV3drs1057517693
GWAS Ctlgrs1057517693
Max Magnitude0
ClinVar
Risk rs1057517693(A;A)
Alt rs1057517693(A;A)
Reference Rs1057517693(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.80855285G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000412541.2,