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rs527236114

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs527236114(G;T)
Make rs527236114(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position96293085
GeneSNRNP200
is asnp
is mentioned by
dbSNPrs527236114
dbSNP (classic)rs527236114
ClinGenrs527236114
ebirs527236114
HLIrs527236114
Exacrs527236114
Gnomadrs527236114
Varsomers527236114
LitVarrs527236114
Maprs527236114
PheGenIrs527236114
Biobankrs527236114
1000 genomesrs527236114
hgdprs527236114
ensemblrs527236114
geneviewrs527236114
scholarrs527236114
googlers527236114
pharmgkbrs527236114
gwascentralrs527236114
openSNPrs527236114
23andMers527236114
SNPshotrs527236114
SNPdbers527236114
MSV3drs527236114
GWAS Ctlgrs527236114
Max Magnitude0
ClinVar
Risk rs527236114(T;T)
Alt rs527236114(T;T)
Reference Rs527236114(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa
Variation info
Gene SNRNP200
CLNDBN Retinitis pigmentosa
Reversed 1
HGVS NC_000002.11:g.96958823C>A
CLNSRC UniProtKB (protein)
CLNACC RCV000132670.1,