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rs387907063

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907063(G;T)
Make rs387907063(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position88431728
GeneZNF469
is asnp
is mentioned by
dbSNPrs387907063
ebirs387907063
HLIrs387907063
Exacrs387907063
Varsomers387907063
Maprs387907063
PheGenIrs387907063
hapmaprs387907063
1000 genomesrs387907063
hgdprs387907063
ensemblrs387907063
gopubmedrs387907063
geneviewrs387907063
scholarrs387907063
googlers387907063
pharmgkbrs387907063
gwascentralrs387907063
openSNPrs387907063
23andMers387907063
23andMe allrs387907063
SNP Nexus

SNPshotrs387907063
SNPdbers387907063
MSV3drs387907063
GWAS Ctlgrs387907063
Max Magnitude0
ClinVar
Risk rs387907063(A,T;A,T)
Alt rs387907063(A,T;A,T)
Reference rs387907063(G;G)
Significance Pathogenic
Disease Corneal fragility keratoglobus
Variation info
Gene ZNF469
CLNDBN Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
Reversed 0
HGVS NC_000016.9:g.88498136G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023932.2,