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rs121918290

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918290(A;A)
Make rs121918290(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position61958146
GeneBEST1
is asnp
is mentioned by
dbSNPrs121918290
ebirs121918290
HLIrs121918290
Exacrs121918290
Varsomers121918290
Maprs121918290
PheGenIrs121918290
hapmaprs121918290
1000 genomesrs121918290
hgdprs121918290
ensemblrs121918290
gopubmedrs121918290
geneviewrs121918290
scholarrs121918290
googlers121918290
pharmgkbrs121918290
gwascentralrs121918290
openSNPrs121918290
23andMers121918290
23andMe allrs121918290
SNP Nexus

SNPshotrs121918290
SNPdbers121918290
MSV3drs121918290
GWAS Ctlgrs121918290
Max Magnitude0
OMIM607854
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121918290(A,T;A,T)
Alt rs121918290(A,T;A,T)
Reference rs121918290(G;G)
Significance Pathogenic
Disease Microcornea
Variation info
Gene BEST1
CLNDBN Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
Reversed 0
HGVS NC_000011.9:g.61725618G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002868.2,