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rs387906964

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906964(C;T)
Make rs387906964(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position45967128
GeneFYCO1
is asnp
is mentioned by
dbSNPrs387906964
dbSNP (classic)rs387906964
ClinGenrs387906964
ebirs387906964
HLIrs387906964
Exacrs387906964
Gnomadrs387906964
Varsomers387906964
LitVarrs387906964
Maprs387906964
PheGenIrs387906964
Biobankrs387906964
1000 genomesrs387906964
hgdprs387906964
ensemblrs387906964
geneviewrs387906964
scholarrs387906964
googlers387906964
pharmgkbrs387906964
gwascentralrs387906964
openSNPrs387906964
23andMers387906964
SNPshotrs387906964
SNPdbers387906964
MSV3drs387906964
GWAS Ctlgrs387906964
Max Magnitude0
ClinVar
Risk rs387906964(T;T)
Alt rs387906964(T;T)
Reference Rs387906964(C;C)
Significance Pathogenic
Disease Cataract
Variation info
Gene FYCO1
CLNDBN Cataract, autosomal recessive congenital 2
Reversed 1
HGVS NC_000003.11:g.46008620G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023621.3,