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rs869312188

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs869312188(-;GG)
Make rs869312188(GG;GG)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position63720752
GeneEYS
is asnp
is mentioned by
dbSNPrs869312188
dbSNP (classic)rs869312188
ClinGenrs869312188
ebirs869312188
HLIrs869312188
Exacrs869312188
Gnomadrs869312188
Varsomers869312188
LitVarrs869312188
Maprs869312188
PheGenIrs869312188
Biobankrs869312188
1000 genomesrs869312188
hgdprs869312188
ensemblrs869312188
geneviewrs869312188
scholarrs869312188
googlers869312188
pharmgkbrs869312188
gwascentralrs869312188
openSNPrs869312188
23andMers869312188
SNPshotrs869312188
SNPdbers869312188
MSV3drs869312188
GWAS Ctlgrs869312188
Max Magnitude0
ClinVar
Risk rs869312188(GG;GG)
Alt rs869312188(GG;GG)
Reference Rs869312188(-;-)
Significance Probable-Pathogenic
Disease Retinal dystrophy
Variation info
Gene EYS
CLNDBN Retinal dystrophy
Reversed 1
HGVS NC_000006.11:g.64430649_64430650dupCC
CLNSRC
CLNACC RCV000210301.1,