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rs119103284

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103284(A;A)
Make rs119103284(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position186210586
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs119103284
ebirs119103284
HLIrs119103284
Exacrs119103284
Varsomers119103284
Maprs119103284
PheGenIrs119103284
hapmaprs119103284
1000 genomesrs119103284
hgdprs119103284
ensemblrs119103284
gopubmedrs119103284
geneviewrs119103284
scholarrs119103284
googlers119103284
pharmgkbrs119103284
gwascentralrs119103284
openSNPrs119103284
23andMers119103284
23andMe allrs119103284
SNP Nexus

SNPshotrs119103284
SNPdbers119103284
MSV3drs119103284
GWAS Ctlgrs119103284
Max Magnitude0
OMIM608614
Desc
Variant0003
Relatedalso
ClinVar
Risk rs119103284(A;A)
Alt rs119103284(A;A)
Reference rs119103284(G;G)
Significance Pathogenic
Disease Bietti crystalline corneoretinal dystrophy
Variation info
Gene CYP4V2
CLNDBN Bietti crystalline corneoretinal dystrophy
Reversed 0
HGVS NC_000004.11:g.187131740G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002273.4,