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rs1057517695

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517695(-;-)
Make rs1057517695(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position78241730
GeneCEP78
is asnp
is mentioned by
dbSNPrs1057517695
dbSNP (old)rs1057517695
ClinGenrs1057517695
ebirs1057517695
HLIrs1057517695
Exacrs1057517695
Gnomadrs1057517695
Varsomers1057517695
Maprs1057517695
PheGenIrs1057517695
Biobankrs1057517695
1000 genomesrs1057517695
hgdprs1057517695
ensemblrs1057517695
gopubmedrs1057517695
geneviewrs1057517695
scholarrs1057517695
googlers1057517695
pharmgkbrs1057517695
gwascentralrs1057517695
openSNPrs1057517695
23andMers1057517695
23andMe allrs1057517695
SNPshotrs1057517695
SNPdbers1057517695
MSV3drs1057517695
GWAS Ctlgrs1057517695
Max Magnitude0
ClinVar
Risk rs1057517695(-;-)
Alt rs1057517695(-;-)
Reference Rs1057517695(T;T)
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.80856646delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000412648.1,