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rs121917735

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917735(C;C)
Make rs121917735(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position79599040
GeneLOC101928230, MAF
is asnp
is mentioned by
dbSNPrs121917735
dbSNP (classic)rs121917735
ClinGenrs121917735
ebirs121917735
HLIrs121917735
Exacrs121917735
Gnomadrs121917735
Varsomers121917735
LitVarrs121917735
Maprs121917735
PheGenIrs121917735
Biobankrs121917735
1000 genomesrs121917735
hgdprs121917735
ensemblrs121917735
geneviewrs121917735
scholarrs121917735
googlers121917735
pharmgkbrs121917735
gwascentralrs121917735
openSNPrs121917735
23andMers121917735
SNPshotrs121917735
SNPdbers121917735
MSV3drs121917735
GWAS Ctlgrs121917735
Max Magnitude0
OMIM177075
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121917735(A;A) rs121917735(C;C)
Alt rs121917735(A;A) rs121917735(C;C)
Reference Rs121917735(G;G)
Significance Pathogenic
Disease Cataract
Variation info
Gene MAF LOC101928230
CLNDBN Cataract, pulverulent, juvenile-onset
Reversed 1
HGVS NC_000016.9:g.79632937C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014136.28,