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rs273585618

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs273585618(C;T)
Make rs273585618(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position88430169
GeneZNF469
is asnp
is mentioned by
dbSNPrs273585618
dbSNP (classic)rs273585618
ClinGenrs273585618
ebirs273585618
HLIrs273585618
Exacrs273585618
Gnomadrs273585618
Varsomers273585618
LitVarrs273585618
Maprs273585618
PheGenIrs273585618
Biobankrs273585618
1000 genomesrs273585618
hgdprs273585618
ensemblrs273585618
geneviewrs273585618
scholarrs273585618
googlers273585618
pharmgkbrs273585618
gwascentralrs273585618
openSNPrs273585618
23andMers273585618
SNPshotrs273585618
SNPdbers273585618
MSV3drs273585618
GWAS Ctlgrs273585618
Max Magnitude0
ClinVar
Risk rs273585618(G;G) rs273585618(T;T)
Alt rs273585618(G;G) rs273585618(T;T)
Reference Rs273585618(C;C)
Significance Pathogenic
Disease Keratoconus 1 Corneal fragility keratoglobus not provided
Variation info
Gene ZNF469
CLNDBN Keratoconus 1 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility not provided
Reversed 0
HGVS NC_000016.9:g.88496577C>G; NC_000016.9:g.88496577C>T
CLNSRC ClinVar
CLNACC RCV000114795.1, RCV000114778.1, RCV000371799.1, RCV000490000.1,