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rs1057517692

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517692(-;-)
Make rs1057517692(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position78243491
GeneCEP78
is asnp
is mentioned by
dbSNPrs1057517692
dbSNP (classic)rs1057517692
ClinGenrs1057517692
ebirs1057517692
HLIrs1057517692
Exacrs1057517692
Gnomadrs1057517692
Varsomers1057517692
LitVarrs1057517692
Maprs1057517692
PheGenIrs1057517692
Biobankrs1057517692
1000 genomesrs1057517692
hgdprs1057517692
ensemblrs1057517692
geneviewrs1057517692
scholarrs1057517692
googlers1057517692
pharmgkbrs1057517692
gwascentralrs1057517692
openSNPrs1057517692
23andMers1057517692
23andMe allrs1057517692
SNPshotrs1057517692
SNPdbers1057517692
MSV3drs1057517692
GWAS Ctlgrs1057517692
Max Magnitude0
ClinVar
Risk rs1057517692(-;-)
Alt rs1057517692(-;-)
Reference Rs1057517692(C;C)
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.80858407delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000412668.2,