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rs752683070

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs752683070(C;C)
Make rs752683070(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position65405349
GeneEYS
is asnp
is mentioned by
dbSNPrs752683070
dbSNP (classic)rs752683070
ClinGenrs752683070
ebirs752683070
HLIrs752683070
Exacrs752683070
Gnomadrs752683070
Varsomers752683070
LitVarrs752683070
Maprs752683070
PheGenIrs752683070
Biobankrs752683070
1000 genomesrs752683070
hgdprs752683070
ensemblrs752683070
geneviewrs752683070
scholarrs752683070
googlers752683070
pharmgkbrs752683070
gwascentralrs752683070
openSNPrs752683070
23andMers752683070
SNPshotrs752683070
SNPdbers752683070
MSV3drs752683070
GWAS Ctlgrs752683070
Max Magnitude0
ClinVar
Risk rs752683070(C;C)
Alt rs752683070(C;C)
Reference Rs752683070(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 25
Variation info
Gene EYS
CLNDBN Retinitis pigmentosa 25
Reversed 0
HGVS NC_000006.11:g.66115242G>C
CLNSRC
CLNACC RCV000190584.1,