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rs28933687

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs28933687(G;T)
Make rs28933687(T;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position46853726
GeneRP2
is asnp
is mentioned by
dbSNPrs28933687
ebirs28933687
HLIrs28933687
Exacrs28933687
Varsomers28933687
Maprs28933687
PheGenIrs28933687
hapmaprs28933687
1000 genomesrs28933687
hgdprs28933687
ensemblrs28933687
gopubmedrs28933687
geneviewrs28933687
scholarrs28933687
googlers28933687
pharmgkbrs28933687
gwascentralrs28933687
openSNPrs28933687
23andMers28933687
23andMe allrs28933687
SNP Nexus

SNPshotrs28933687
SNPdbers28933687
MSV3drs28933687
GWAS Ctlgrs28933687
Max Magnitude0
OMIM312600
DescRETINITIS PIGMENTOSA 2, X-LINKED
Variant0006
Relatedalso
OMIM300757
Desc
Variant0003
Relatedalso
OMIM300757
Desc
Variant0006
Relatedalso


ClinVar
Risk rs28933687(A,T;A,T)
Alt rs28933687(A,T;A,T)
Reference rs28933687(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 2
Variation info
Gene RP2
CLNDBN Retinitis pigmentosa 2
Reversed 1
HGVS NC_000023.10:g.46713161G>A; NC_000023.10:g.46713161G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011292.2, RCV000011295.7,