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rs200826424

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200826424(A;A)
Make rs200826424(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position49549530
GeneRCBTB1
is asnp
is mentioned by
dbSNPrs200826424
dbSNP (classic)rs200826424
ClinGenrs200826424
ebirs200826424
HLIrs200826424
Exacrs200826424
Gnomadrs200826424
Varsomers200826424
LitVarrs200826424
Maprs200826424
PheGenIrs200826424
Biobankrs200826424
1000 genomesrs200826424
hgdprs200826424
ensemblrs200826424
geneviewrs200826424
scholarrs200826424
googlers200826424
pharmgkbrs200826424
gwascentralrs200826424
openSNPrs200826424
23andMers200826424
SNPshotrs200826424
SNPdbers200826424
MSV3drs200826424
GWAS Ctlgrs200826424
Max Magnitude0
ClinVar
Risk rs200826424(A;A)
Alt rs200826424(A;A)
Reference Rs200826424(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES
Variation info
Gene RCBTB1
CLNDBN Retinitis pigmentosa RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES
Reversed 0
HGVS NC_000013.10:g.50123666G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000239605.1, RCV000258084.1,