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rs121918584

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918584(A;A)
Make rs121918584(A;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position93600739
GeneRBP4
is asnp
is mentioned by
dbSNPrs121918584
dbSNP (classic)rs121918584
ClinGenrs121918584
ebirs121918584
HLIrs121918584
Exacrs121918584
Gnomadrs121918584
Varsomers121918584
LitVarrs121918584
Maprs121918584
PheGenIrs121918584
Biobankrs121918584
1000 genomesrs121918584
hgdprs121918584
ensemblrs121918584
geneviewrs121918584
scholarrs121918584
googlers121918584
pharmgkbrs121918584
gwascentralrs121918584
openSNPrs121918584
23andMers121918584
SNPshotrs121918584
SNPdbers121918584
MSV3drs121918584
GWAS Ctlgrs121918584
Max Magnitude0
OMIM180250
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918584(A;A)
Alt rs121918584(A;A)
Reference Rs121918584(T;T)
Significance Pathogenic
Disease Retinal dystrophy
Variation info
Gene RBP4
CLNDBN Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
Reversed 1
HGVS NC_000010.10:g.95360496A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013942.26,