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rs119103283

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs119103283(C;C)
Make rs119103283(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position186196007
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs119103283
ebirs119103283
HLIrs119103283
Exacrs119103283
Varsomers119103283
Maprs119103283
PheGenIrs119103283
hapmaprs119103283
1000 genomesrs119103283
hgdprs119103283
ensemblrs119103283
gopubmedrs119103283
geneviewrs119103283
scholarrs119103283
googlers119103283
pharmgkbrs119103283
gwascentralrs119103283
openSNPrs119103283
23andMers119103283
23andMe allrs119103283
SNP Nexus

SNPshotrs119103283
SNPdbers119103283
MSV3drs119103283
GWAS Ctlgrs119103283
Max Magnitude0
OMIM608614
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119103283(C,G;C,G)
Alt rs119103283(C,G;C,G)
Reference rs119103283(T;T)
Significance Pathogenic
Disease Bietti crystalline corneoretinal dystrophy
Variation info
Gene CYP4V2
CLNDBN Bietti crystalline corneoretinal dystrophy
Reversed 0
HGVS NC_000004.11:g.187117161T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002272.5,