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rs121917736

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121917736(A;G)
Make rs121917736(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position79599013
GeneLOC101928230, MAF
is asnp
is mentioned by
dbSNPrs121917736
dbSNP (classic)rs121917736
ClinGenrs121917736
ebirs121917736
HLIrs121917736
Exacrs121917736
Gnomadrs121917736
Varsomers121917736
LitVarrs121917736
Maprs121917736
PheGenIrs121917736
Biobankrs121917736
1000 genomesrs121917736
hgdprs121917736
ensemblrs121917736
geneviewrs121917736
scholarrs121917736
googlers121917736
pharmgkbrs121917736
gwascentralrs121917736
openSNPrs121917736
23andMers121917736
SNPshotrs121917736
SNPdbers121917736
MSV3drs121917736
GWAS Ctlgrs121917736
Max Magnitude0
OMIM177075
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121917736(G;G)
Alt rs121917736(G;G)
Reference Rs121917736(A;A)
Significance Pathogenic
Disease Cataract
Variation info
Gene MAF LOC101928230
CLNDBN Cataract, pulverulent, juvenile-onset
Reversed 1
HGVS NC_000016.9:g.79632910T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014137.18,