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rs372989281

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs372989281(C;T)
Make rs372989281(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position61958194
GeneBEST1, LOC107984334
is asnp
is mentioned by
dbSNPrs372989281
dbSNP (classic)rs372989281
ClinGenrs372989281
ebirs372989281
HLIrs372989281
Exacrs372989281
Gnomadrs372989281
Varsomers372989281
LitVarrs372989281
Maprs372989281
PheGenIrs372989281
Biobankrs372989281
1000 genomesrs372989281
hgdprs372989281
ensemblrs372989281
geneviewrs372989281
scholarrs372989281
googlers372989281
pharmgkbrs372989281
gwascentralrs372989281
openSNPrs372989281
23andMers372989281
SNPshotrs372989281
SNPdbers372989281
MSV3drs372989281
GWAS Ctlgrs372989281
Max Magnitude0
ClinVar
Risk rs372989281(T;T)
Alt rs372989281(T;T)
Reference Rs372989281(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa
Variation info
Gene BEST1
CLNDBN Retinitis pigmentosa
Reversed 0
HGVS NC_000011.9:g.61725666C>T
CLNSRC ClinVar
CLNACC RCV000132651.1,