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rs1057518822

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518822(C;T)
Make rs1057518822(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position88102888
GeneCEP290
is asnp
is mentioned by
dbSNPrs1057518822
dbSNP (old)rs1057518822
ClinGenrs1057518822
ebirs1057518822
HLIrs1057518822
Exacrs1057518822
Gnomadrs1057518822
Varsomers1057518822
Maprs1057518822
PheGenIrs1057518822
Biobankrs1057518822
1000 genomesrs1057518822
hgdprs1057518822
ensemblrs1057518822
gopubmedrs1057518822
geneviewrs1057518822
scholarrs1057518822
googlers1057518822
pharmgkbrs1057518822
gwascentralrs1057518822
openSNPrs1057518822
23andMers1057518822
23andMe allrs1057518822
SNPshotrs1057518822
SNPdbers1057518822
MSV3drs1057518822
GWAS Ctlgrs1057518822
Max Magnitude0
ClinVar
Risk rs1057518822(T;T)
Alt rs1057518822(T;T)
Reference Rs1057518822(C;C)
Significance Pathogenic
Disease Central hypotonia Molar tooth sign on MRI Nystagmus Blindness
Variation info
Gene CEP290
CLNDBN Central hypotonia Molar tooth sign on MRI Nystagmus Blindness
Reversed 1
HGVS NC_000012.11:g.88496665G>A
CLNSRC
CLNACC RCV000414899.1, RCV000415004.1,