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rs387907062

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907062(A;A)
Make rs387907062(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position88437570
GeneZNF469
is asnp
is mentioned by
dbSNPrs387907062
ebirs387907062
HLIrs387907062
Exacrs387907062
Varsomers387907062
Maprs387907062
PheGenIrs387907062
hapmaprs387907062
1000 genomesrs387907062
hgdprs387907062
ensemblrs387907062
gopubmedrs387907062
geneviewrs387907062
scholarrs387907062
googlers387907062
pharmgkbrs387907062
gwascentralrs387907062
openSNPrs387907062
23andMers387907062
23andMe allrs387907062
SNP Nexus

SNPshotrs387907062
SNPdbers387907062
MSV3drs387907062
GWAS Ctlgrs387907062
Max Magnitude0
ClinVar
Risk rs387907062(A;A)
Alt rs387907062(A;A)
Reference rs387907062(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.88503978G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023931.2,