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rs281865147

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GGGGTC;GGGGTC) 0 common in clinvar
Make rs281865147(-;-)
Make rs281865147(-;GTCGGG)
Make rs281865147(GTCGGG;GTCGGG)
ReferenceGRCh38 38.1/142
Chromosome16
Position88430374
GeneZNF469
is asnp
is mentioned by
dbSNPrs281865147
ebirs281865147
HLIrs281865147
Exacrs281865147
Varsomers281865147
Maprs281865147
PheGenIrs281865147
hapmaprs281865147
1000 genomesrs281865147
hgdprs281865147
ensemblrs281865147
gopubmedrs281865147
geneviewrs281865147
scholarrs281865147
googlers281865147
pharmgkbrs281865147
gwascentralrs281865147
openSNPrs281865147
23andMers281865147
23andMe allrs281865147
SNP Nexus

SNPshotrs281865147
SNPdbers281865147
MSV3drs281865147
GWAS Ctlgrs281865147
Max Magnitude0
ClinVar
Risk rs281865147(;)
Alt rs281865147(;)
Reference rs281865147(GGGGTC;GGGGTC)
Significance Pathogenic
Disease Keratoconus 1
Variation info
Gene ZNF469
CLNDBN Keratoconus 1
Reversed 0
HGVS NC_000016.9:g.88496782_88496787delGTCGGG
CLNSRC ClinVar
CLNACC RCV000114796.1,