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rs397514575

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514575(C;G)
Make rs397514575(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position96290415
GeneSNRNP200
is asnp
is mentioned by
dbSNPrs397514575
ebirs397514575
HLIrs397514575
Exacrs397514575
Varsomers397514575
Maprs397514575
PheGenIrs397514575
hapmaprs397514575
1000 genomesrs397514575
hgdprs397514575
ensemblrs397514575
gopubmedrs397514575
geneviewrs397514575
scholarrs397514575
googlers397514575
pharmgkbrs397514575
gwascentralrs397514575
openSNPrs397514575
23andMers397514575
23andMe allrs397514575
SNP Nexus

SNPshotrs397514575
SNPdbers397514575
MSV3drs397514575
GWAS Ctlgrs397514575
Max Magnitude0
ClinVar
Risk rs397514575(G;G)
Alt rs397514575(G;G)
Reference rs397514575(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 33
Variation info
Gene SNRNP200
CLNDBN Retinitis pigmentosa 33
Reversed 1
HGVS NC_000002.11:g.96956153G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032963.3,