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rs398123575

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123575(G;G)
Make rs398123575(G;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position63864319
GeneEYS
is asnp
is mentioned by
dbSNPrs398123575
ebirs398123575
HLIrs398123575
Exacrs398123575
Varsomers398123575
Maprs398123575
PheGenIrs398123575
hapmaprs398123575
1000 genomesrs398123575
hgdprs398123575
ensemblrs398123575
gopubmedrs398123575
geneviewrs398123575
scholarrs398123575
googlers398123575
pharmgkbrs398123575
gwascentralrs398123575
openSNPrs398123575
23andMers398123575
23andMe allrs398123575
SNP Nexus

SNPshotrs398123575
SNPdbers398123575
MSV3drs398123575
GWAS Ctlgrs398123575
Max Magnitude0
ClinVar
Risk rs398123575(G;G)
Alt rs398123575(G;G)
Reference rs398123575(T;T)
Significance Pathogenic
Disease not provided Retinitis pigmentosa 25 Retinal dystrophy
Variation info
Gene EYS
CLNDBN not provided Retinitis pigmentosa 25 Retinal dystrophy
Reversed 1
HGVS NC_000006.11:g.64574212A>C
CLNSRC HGMD
CLNACC RCV000079546.3, RCV000177866.1, RCV000210330.1,