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rs1085307126

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome20
Position17496938
GeneBFSP1
is asnp
is mentioned by
dbSNPrs1085307126
dbSNP (old)rs1085307126
ClinGenrs1085307126
ebirs1085307126
HLIrs1085307126
Exacrs1085307126
Gnomadrs1085307126
Varsomers1085307126
Maprs1085307126
PheGenIrs1085307126
Biobankrs1085307126
1000 genomesrs1085307126
hgdprs1085307126
ensemblrs1085307126
gopubmedrs1085307126
geneviewrs1085307126
scholarrs1085307126
googlers1085307126
pharmgkbrs1085307126
gwascentralrs1085307126
openSNPrs1085307126
23andMers1085307126
23andMe allrs1085307126
SNPshotrs1085307126
SNPdbers1085307126
MSV3drs1085307126
GWAS Ctlgrs1085307126
Max Magnitude0
ClinVar
Risk rs1085307126(A;A)
Alt rs1085307126(A;A)
Reference Rs1085307126(G;G)
Significance Pathogenic
Disease Cataract
Variation info
Gene BFSP1
CLNDBN Cataract, cortical, juvenile-onset
Reversed 1
HGVS NC_000020.10:g.17477583C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000488438.1,