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rs869312819

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312819(A;A)
Make rs869312819(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position49544736
GeneRCBTB1
is asnp
is mentioned by
dbSNPrs869312819
ebirs869312819
HLIrs869312819
Exacrs869312819
Varsomers869312819
Maprs869312819
PheGenIrs869312819
hapmaprs869312819
1000 genomesrs869312819
hgdprs869312819
ensemblrs869312819
gopubmedrs869312819
geneviewrs869312819
scholarrs869312819
googlers869312819
pharmgkbrs869312819
gwascentralrs869312819
openSNPrs869312819
23andMers869312819
23andMe allrs869312819
SNP Nexus

SNPshotrs869312819
SNPdbers869312819
MSV3drs869312819
GWAS Ctlgrs869312819
Max Magnitude0
ClinVar
Risk rs869312819(A;A)
Alt rs869312819(A;A)
Reference rs869312819(G;G)
Significance Probable-Pathogenic
Disease Exudative retinopathy Familial exudative vitreoretinopathy
Variation info
Gene RCBTB1
CLNDBN Exudative retinopathy Familial exudative vitreoretinopathy
Reversed 1
HGVS NC_000013.10:g.50118872C>T
CLNSRC
CLNACC RCV000210240.1,