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rs527236120

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs527236120(-;-)
Make rs527236120(-;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position215867170
GeneUSH2A
is asnp
is mentioned by
dbSNPrs527236120
dbSNP (classic)rs527236120
ClinGenrs527236120
ebirs527236120
HLIrs527236120
Exacrs527236120
Gnomadrs527236120
Varsomers527236120
LitVarrs527236120
Maprs527236120
PheGenIrs527236120
Biobankrs527236120
1000 genomesrs527236120
hgdprs527236120
ensemblrs527236120
geneviewrs527236120
scholarrs527236120
googlers527236120
pharmgkbrs527236120
gwascentralrs527236120
openSNPrs527236120
23andMers527236120
SNPshotrs527236120
SNPdbers527236120
MSV3drs527236120
GWAS Ctlgrs527236120
Max Magnitude0
ClinVar
Risk rs527236120(-;-)
Alt rs527236120(-;-)
Reference Rs527236120(G;G)
Significance Probable-Pathogenic
Disease Retinitis pigmentosa
Variation info
Gene USH2A
CLNDBN Retinitis pigmentosa
Reversed 1
HGVS NC_000001.10:g.216040512delC
CLNSRC ClinVar
CLNACC RCV000132716.1,