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rs527236083

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs527236083(-;-)
Make rs527236083(-;A)
ReferenceGRCh38 38.1/142
Chromosome2
Position111929283
GeneMERTK
is asnp
is mentioned by
dbSNPrs527236083
dbSNP (classic)rs527236083
ClinGenrs527236083
ebirs527236083
HLIrs527236083
Exacrs527236083
Gnomadrs527236083
Varsomers527236083
LitVarrs527236083
Maprs527236083
PheGenIrs527236083
Biobankrs527236083
1000 genomesrs527236083
hgdprs527236083
ensemblrs527236083
geneviewrs527236083
scholarrs527236083
googlers527236083
pharmgkbrs527236083
gwascentralrs527236083
openSNPrs527236083
23andMers527236083
SNPshotrs527236083
SNPdbers527236083
MSV3drs527236083
GWAS Ctlgrs527236083
Max Magnitude0
ClinVar
Risk rs527236083(-;-)
Alt rs527236083(-;-)
Reference Rs527236083(A;A)
Significance Probable-Pathogenic
Disease Retinitis pigmentosa
Variation info
Gene MERTK
CLNDBN Retinitis pigmentosa
Reversed 0
HGVS NC_000002.11:g.112686860delA
CLNSRC ClinVar
CLNACC RCV000132664.1,