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rs144109267

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs144109267(A;G)
Make rs144109267(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position186209260
GeneCYP4V2, KLKB1
is asnp
is mentioned by
dbSNPrs144109267
ebirs144109267
HLIrs144109267
Exacrs144109267
Varsomers144109267
Maprs144109267
PheGenIrs144109267
hapmaprs144109267
1000 genomesrs144109267
hgdprs144109267
ensemblrs144109267
gopubmedrs144109267
geneviewrs144109267
scholarrs144109267
googlers144109267
pharmgkbrs144109267
gwascentralrs144109267
openSNPrs144109267
23andMers144109267
23andMe allrs144109267
SNP Nexus

SNPshotrs144109267
SNPdbers144109267
MSV3drs144109267
GWAS Ctlgrs144109267
Max Magnitude0
ClinVar
Risk rs144109267(G;G)
Alt rs144109267(G;G)
Reference rs144109267(A;A)
Significance Pathogenic
Disease Bietti crystalline corneoretinal dystrophy
Variation info
Gene CYP4V2
CLNDBN Bietti crystalline corneoretinal dystrophy
Reversed 0
HGVS NC_000004.11:g.187130414A>G
CLNSRC HGMD
CLNACC RCV000153133.3,