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rs119103285

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103285(A;A)
Make rs119103285(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position186192004
GeneCYP4V2, ELF2P4
is asnp
is mentioned by
dbSNPrs119103285
ebirs119103285
HLIrs119103285
Exacrs119103285
Varsomers119103285
Maprs119103285
PheGenIrs119103285
hapmaprs119103285
1000 genomesrs119103285
hgdprs119103285
ensemblrs119103285
gopubmedrs119103285
geneviewrs119103285
scholarrs119103285
googlers119103285
pharmgkbrs119103285
gwascentralrs119103285
openSNPrs119103285
23andMers119103285
23andMe allrs119103285
SNP Nexus

SNPshotrs119103285
SNPdbers119103285
MSV3drs119103285
GWAS Ctlgrs119103285
Max Magnitude0
OMIM608614
Desc
Variant0004
Relatedalso
ClinVar
Risk rs119103285(A;A)
Alt rs119103285(A;A)
Reference rs119103285(G;G)
Significance Pathogenic
Disease Bietti crystalline corneoretinal dystrophy
Variation info
Gene FLJ38576 CYP4V2
CLNDBN Bietti crystalline corneoretinal dystrophy
Reversed 0
HGVS NC_000004.11:g.187113158G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002274.4,