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rs281865528

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs281865528(-;-)
Make rs281865528(-;CA)
ReferenceGRCh38 38.1/142
Chromosome11
Position61962624
GeneBEST1
is asnp
is mentioned by
dbSNPrs281865528
dbSNP (classic)rs281865528
ClinGenrs281865528
ebirs281865528
HLIrs281865528
Exacrs281865528
Gnomadrs281865528
Varsomers281865528
LitVarrs281865528
Maprs281865528
PheGenIrs281865528
Biobankrs281865528
1000 genomesrs281865528
hgdprs281865528
ensemblrs281865528
geneviewrs281865528
scholarrs281865528
googlers281865528
pharmgkbrs281865528
gwascentralrs281865528
openSNPrs281865528
23andMers281865528
SNPshotrs281865528
SNPdbers281865528
MSV3drs281865528
GWAS Ctlgrs281865528
Max Magnitude0
ClinVar
Risk rs281865528(-;-)
Alt rs281865528(-;-)
Reference Rs281865528(CA;CA)
Significance Pathogenic
Disease Vitelliform macular dystrophy type 2 not provided
Variation info
Gene BEST1
CLNDBN Vitelliform macular dystrophy type 2 not provided
Reversed 0
HGVS NC_000011.9:g.61730096_61730097delCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000002861.4, RCV000086087.1,