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rs797045181

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797045181(A;G)
Make rs797045181(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position186209263
GeneCYP4V2, KLKB1
is asnp
is mentioned by
dbSNPrs797045181
ebirs797045181
HLIrs797045181
Exacrs797045181
Varsomers797045181
Maprs797045181
PheGenIrs797045181
hapmaprs797045181
1000 genomesrs797045181
hgdprs797045181
ensemblrs797045181
gopubmedrs797045181
geneviewrs797045181
scholarrs797045181
googlers797045181
pharmgkbrs797045181
gwascentralrs797045181
openSNPrs797045181
23andMers797045181
23andMe allrs797045181
SNP Nexus

SNPshotrs797045181
SNPdbers797045181
MSV3drs797045181
GWAS Ctlgrs797045181
Max Magnitude0
ClinVar
Risk rs797045181(G;G)
Alt rs797045181(G;G)
Reference rs797045181(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.187130417A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000191926.2,