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rs28933990

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28933990(C;T)
Make rs28933990(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position89210794
GeneRLBP1
is asnp
is mentioned by
dbSNPrs28933990
ebirs28933990
HLIrs28933990
Exacrs28933990
Varsomers28933990
Maprs28933990
PheGenIrs28933990
hapmaprs28933990
1000 genomesrs28933990
hgdprs28933990
ensemblrs28933990
gopubmedrs28933990
geneviewrs28933990
scholarrs28933990
googlers28933990
pharmgkbrs28933990
gwascentralrs28933990
openSNPrs28933990
23andMers28933990
23andMe allrs28933990
SNP Nexus

SNPshotrs28933990
SNPdbers28933990
MSV3drs28933990
GWAS Ctlgrs28933990
Max Magnitude0
OMIM180090
DescBOTHNIA RETINAL DYSTROPHY
Variant0004
Relatedalso


ClinVar
Risk rs28933990(T;T)
Alt rs28933990(T;T)
Reference rs28933990(C;C)
Significance Pathogenic
Disease Bothnia retinal dystrophy Retinitis punctata albescens
Variation info
Gene RLBP1
CLNDBN Bothnia retinal dystrophy Retinitis punctata albescens
Reversed 1
HGVS NC_000015.9:g.89754025G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013978.24, RCV000013979.24,