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

rs1085307127

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Chromosome20
Position17496935
GeneBFSP1
is asnp
is mentioned by
dbSNPrs1085307127
dbSNP (old)rs1085307127
ClinGenrs1085307127
ebirs1085307127
HLIrs1085307127
Exacrs1085307127
Gnomadrs1085307127
Varsomers1085307127
Maprs1085307127
PheGenIrs1085307127
Biobankrs1085307127
1000 genomesrs1085307127
hgdprs1085307127
ensemblrs1085307127
gopubmedrs1085307127
geneviewrs1085307127
scholarrs1085307127
googlers1085307127
pharmgkbrs1085307127
gwascentralrs1085307127
openSNPrs1085307127
23andMers1085307127
23andMe allrs1085307127
SNPshotrs1085307127
SNPdbers1085307127
MSV3drs1085307127
GWAS Ctlgrs1085307127
Max Magnitude0
ClinVar
Risk rs1085307127(G;G)
Alt rs1085307127(G;G)
Reference Rs1085307127(A;A)
Significance Pathogenic
Disease Cataract
Variation info
Gene BFSP1
CLNDBN Cataract, cortical, juvenile-onset
Reversed 1
HGVS NC_000020.10:g.17477580T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000488441.1,