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rs398122378

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122378(-;-)
Make rs398122378(-;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position56451434
GeneMIP, TIMELESS
is asnp
is mentioned by
dbSNPrs398122378
dbSNP (classic)rs398122378
ClinGenrs398122378
ebirs398122378
HLIrs398122378
Exacrs398122378
Gnomadrs398122378
Varsomers398122378
LitVarrs398122378
Maprs398122378
PheGenIrs398122378
Biobankrs398122378
1000 genomesrs398122378
hgdprs398122378
ensemblrs398122378
geneviewrs398122378
scholarrs398122378
googlers398122378
pharmgkbrs398122378
gwascentralrs398122378
openSNPrs398122378
23andMers398122378
SNPshotrs398122378
SNPdbers398122378
MSV3drs398122378
GWAS Ctlgrs398122378
Max Magnitude0
ClinVar
Risk rs398122378(-;-)
Alt rs398122378(-;-)
Reference Rs398122378(G;G)
Significance Pathogenic
Disease Cataract 15
Variation info
Gene TIMELESS MIP
CLNDBN Cataract 15, multiple types
Reversed 1
HGVS NC_000012.11:g.56845218delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000043661.21,