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rs397514574

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514574(G;T)
Make rs397514574(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position96287959
GeneSNRNP200
is asnp
is mentioned by
dbSNPrs397514574
dbSNP (classic)rs397514574
ClinGenrs397514574
ebirs397514574
HLIrs397514574
Exacrs397514574
Gnomadrs397514574
Varsomers397514574
LitVarrs397514574
Maprs397514574
PheGenIrs397514574
Biobankrs397514574
1000 genomesrs397514574
hgdprs397514574
ensemblrs397514574
geneviewrs397514574
scholarrs397514574
googlers397514574
pharmgkbrs397514574
gwascentralrs397514574
openSNPrs397514574
23andMers397514574
SNPshotrs397514574
SNPdbers397514574
MSV3drs397514574
GWAS Ctlgrs397514574
Max Magnitude0
ClinVar
Risk rs397514574(A;A) rs397514574(T;T)
Alt rs397514574(A;A) rs397514574(T;T)
Reference Rs397514574(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 33
Variation info
Gene SNRNP200
CLNDBN Retinitis pigmentosa 33
Reversed 1
HGVS NC_000002.11:g.96953697C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000032962.3,