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rs387906963

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906963(C;T)
Make rs387906963(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position45968289
GeneFYCO1
is asnp
is mentioned by
dbSNPrs387906963
dbSNP (classic)rs387906963
ClinGenrs387906963
ebirs387906963
HLIrs387906963
Exacrs387906963
Gnomadrs387906963
Varsomers387906963
LitVarrs387906963
Maprs387906963
PheGenIrs387906963
Biobankrs387906963
1000 genomesrs387906963
hgdprs387906963
ensemblrs387906963
geneviewrs387906963
scholarrs387906963
googlers387906963
pharmgkbrs387906963
gwascentralrs387906963
openSNPrs387906963
23andMers387906963
SNPshotrs387906963
SNPdbers387906963
MSV3drs387906963
GWAS Ctlgrs387906963
Max Magnitude0
ClinVar
Risk rs387906963(T;T)
Alt rs387906963(T;T)
Reference Rs387906963(C;C)
Significance Pathogenic
Disease Cataract
Variation info
Gene FYCO1
CLNDBN Cataract, autosomal recessive congenital 2
Reversed 1
HGVS NC_000003.11:g.46009781G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023620.3,