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

rs1805142

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1805142(C;C)
Make rs1805142(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position61955825
GeneBEST1
is asnp
is mentioned by
dbSNPrs1805142
dbSNP (classic)rs1805142
ClinGenrs1805142
ebirs1805142
HLIrs1805142
Exacrs1805142
Gnomadrs1805142
Varsomers1805142
LitVarrs1805142
Maprs1805142
PheGenIrs1805142
Biobankrs1805142
1000 genomesrs1805142
hgdprs1805142
ensemblrs1805142
geneviewrs1805142
scholarrs1805142
googlers1805142
pharmgkbrs1805142
gwascentralrs1805142
openSNPrs1805142
23andMers1805142
SNPshotrs1805142
SNPdbers1805142
MSV3drs1805142
GWAS Ctlgrs1805142
Merged fromRs28940277
Max Magnitude0
OMIM607854
Desc
Variant0008
Relatedalso


ClinVar
Risk rs1805142(C;C)
Alt rs1805142(C;C)
Reference Rs1805142(G;G)
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.61723297G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002856.3, RCV000086129.1,