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rs119103282

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs119103282(A;A)
Make rs119103282(A;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position186191953
GeneCYP4V2, ELF2P4
is asnp
is mentioned by
dbSNPrs119103282
ebirs119103282
HLIrs119103282
Exacrs119103282
Varsomers119103282
Maprs119103282
PheGenIrs119103282
hapmaprs119103282
1000 genomesrs119103282
hgdprs119103282
ensemblrs119103282
gopubmedrs119103282
geneviewrs119103282
scholarrs119103282
googlers119103282
pharmgkbrs119103282
gwascentralrs119103282
openSNPrs119103282
23andMers119103282
23andMe allrs119103282
SNP Nexus

SNPshotrs119103282
SNPdbers119103282
MSV3drs119103282
GWAS Ctlgrs119103282
Max Magnitude0
OMIM608614
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119103282(A,C;A,C)
Alt rs119103282(A,C;A,C)
Reference rs119103282(T;T)
Significance Pathogenic
Disease Bietti crystalline corneoretinal dystrophy
Variation info
Gene FLJ38576 CYP4V2
CLNDBN Bietti crystalline corneoretinal dystrophy
Reversed 0
HGVS NC_000004.11:g.187113107T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002271.4,