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rs1057518753

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518753(A;G)
Make rs1057518753(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position78265370
GeneCEP78
is asnp
is mentioned by
dbSNPrs1057518753
dbSNP (old)rs1057518753
ClinGenrs1057518753
ebirs1057518753
HLIrs1057518753
Exacrs1057518753
Gnomadrs1057518753
Varsomers1057518753
LitVarrs1057518753
Maprs1057518753
PheGenIrs1057518753
Biobankrs1057518753
1000 genomesrs1057518753
hgdprs1057518753
ensemblrs1057518753
gopubmedrs1057518753
geneviewrs1057518753
scholarrs1057518753
googlers1057518753
pharmgkbrs1057518753
gwascentralrs1057518753
openSNPrs1057518753
23andMers1057518753
23andMe allrs1057518753
SNPshotrs1057518753
SNPdbers1057518753
MSV3drs1057518753
GWAS Ctlgrs1057518753
Max Magnitude0
ClinVar
Risk rs1057518753(G;G)
Alt rs1057518753(G;G)
Reference Rs1057518753(A;A)
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.80880286A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000412602.3,