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rs1800995

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs1800995(AA;AA)
Make rs1800995(AA;GC)
ReferenceGRCh38 38.1/141
Chromosome11
Position61955906
GeneBEST1
is asnp
is mentioned by
dbSNPrs1800995
ebirs1800995
HLIrs1800995
Exacrs1800995
Varsomers1800995
Maprs1800995
PheGenIrs1800995
hapmaprs1800995
1000 genomesrs1800995
hgdprs1800995
ensemblrs1800995
gopubmedrs1800995
geneviewrs1800995
scholarrs1800995
googlers1800995
pharmgkbrs1800995
gwascentralrs1800995
openSNPrs1800995
23andMers1800995
23andMe allrs1800995
SNP Nexus

SNPshotrs1800995
SNPdbers1800995
MSV3drs1800995
GWAS Ctlgrs1800995
Max Magnitude0
OMIM607854
Desc
Variant0009
Relatedalso
ClinVar
Risk rs1800995(AA;AA)
Alt rs1800995(AA;AA)
Reference rs1800995(GC;GC)
Significance Pathogenic
Disease Vitelliform dystrophy not provided
Variation info
Gene BEST1
CLNDBN Vitelliform dystrophy not provided
Reversed 0
HGVS NC_000011.9:g.61723378_61723379delGCinsAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000002857.3, RCV000086136.1,