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rs387906965

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906965(C;C)
Make rs387906965(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position45931195
GeneFYCO1
is asnp
is mentioned by
dbSNPrs387906965
dbSNP (classic)rs387906965
ClinGenrs387906965
ebirs387906965
HLIrs387906965
Exacrs387906965
Gnomadrs387906965
Varsomers387906965
LitVarrs387906965
Maprs387906965
PheGenIrs387906965
Biobankrs387906965
1000 genomesrs387906965
hgdprs387906965
ensemblrs387906965
geneviewrs387906965
scholarrs387906965
googlers387906965
pharmgkbrs387906965
gwascentralrs387906965
openSNPrs387906965
23andMers387906965
SNPshotrs387906965
SNPdbers387906965
MSV3drs387906965
GWAS Ctlgrs387906965
Max Magnitude0
ClinVar
Risk rs387906965(C;C)
Alt rs387906965(C;C)
Reference Rs387906965(T;T)
Significance Pathogenic
Disease Cataract
Variation info
Gene FYCO1
CLNDBN Cataract, autosomal recessive congenital 2
Reversed 1
HGVS NC_000003.11:g.45972687A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023624.3,