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rs1057517691

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517691(G;T)
Make rs1057517691(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position78240365
GeneCEP78
is asnp
is mentioned by
dbSNPrs1057517691
dbSNP (old)rs1057517691
ClinGenrs1057517691
ebirs1057517691
HLIrs1057517691
Exacrs1057517691
Gnomadrs1057517691
Varsomers1057517691
LitVarrs1057517691
Maprs1057517691
PheGenIrs1057517691
Biobankrs1057517691
1000 genomesrs1057517691
hgdprs1057517691
ensemblrs1057517691
gopubmedrs1057517691
geneviewrs1057517691
scholarrs1057517691
googlers1057517691
pharmgkbrs1057517691
gwascentralrs1057517691
openSNPrs1057517691
23andMers1057517691
23andMe allrs1057517691
SNPshotrs1057517691
SNPdbers1057517691
MSV3drs1057517691
GWAS Ctlgrs1057517691
Max Magnitude0
ClinVar
Risk rs1057517691(T;T)
Alt rs1057517691(T;T)
Reference Rs1057517691(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.80855281G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000412585.2,