Have questions? Visit https://www.reddit.com/r/SNPedia

rs281865252

From SNPedia

Merged intors121918283
Orientationplus
Stabilizedplus
Geno Mag Summary
(TCA;TCA) 0 common in clinvar
Make rs281865252(-;-)
Make rs281865252(-;TCA)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position61959511
GeneBEST1
is asnp
is mentioned by
dbSNPrs281865252
dbSNP (classic)rs281865252
ClinGenrs281865252
ebirs281865252
HLIrs281865252
Exacrs281865252
Gnomadrs281865252
Varsomers281865252
LitVarrs281865252
Maprs281865252
PheGenIrs281865252
Biobankrs281865252
1000 genomesrs281865252
hgdprs281865252
ensemblrs281865252
geneviewrs281865252
scholarrs281865252
googlers281865252
pharmgkbrs281865252
gwascentralrs281865252
openSNPrs281865252
23andMers281865252
SNPshotrs281865252
SNPdbers281865252
MSV3drs281865252
GWAS Ctlgrs281865252
StatusMerged into rs121918283
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs281865252(TCA;TCA)
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.61726986_61726988delTCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000002854.4, RCV000086179.1,