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rs137853190

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853190(A;A)
Make rs137853190(A;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position63720626
GeneEYS
is asnp
is mentioned by
dbSNPrs137853190
dbSNP (classic)rs137853190
ClinGenrs137853190
ebirs137853190
HLIrs137853190
Exacrs137853190
Gnomadrs137853190
Varsomers137853190
LitVarrs137853190
Maprs137853190
PheGenIrs137853190
Biobankrs137853190
1000 genomesrs137853190
hgdprs137853190
ensemblrs137853190
geneviewrs137853190
scholarrs137853190
googlers137853190
pharmgkbrs137853190
gwascentralrs137853190
openSNPrs137853190
23andMers137853190
SNPshotrs137853190
SNPdbers137853190
MSV3drs137853190
GWAS Ctlgrs137853190
Max Magnitude0
OMIM612424
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137853190(A;A)
Alt rs137853190(A;A)
Reference Rs137853190(T;T)
Significance Pathogenic
Disease Retinitis pigmentosa 25
Variation info
Gene EYS
CLNDBN Retinitis pigmentosa 25
Reversed 1
HGVS NC_000006.11:g.64430522A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000568.2,