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rs1055138

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0.5 likely to be benign
(C;G) 0.5 likely to be benign
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome4
Position186191887
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs1055138
ebirs1055138
HLIrs1055138
Exacrs1055138
Varsomers1055138
Maprs1055138
PheGenIrs1055138
hapmaprs1055138
1000 genomesrs1055138
hgdprs1055138
ensemblrs1055138
gopubmedrs1055138
geneviewrs1055138
scholarrs1055138
googlers1055138
pharmgkbrs1055138
gwascentralrs1055138
openSNPrs1055138
23andMers1055138
23andMe allrs1055138
SNP Nexus

SNPshotrs1055138
SNPdbers1055138
MSV3drs1055138
GWAS Ctlgrs1055138
GMAF0.438
Max Magnitude0.5

Initially reported in ClinVar as pathogenic, two subsequent reviews have concluded this variant is benign.

? (C;C) (C;G) (G;G) 28
ClinVar
Risk rs1055138(C;C)
Alt rs1055138(C;C)
Reference rs1055138(G;G)
Significance Pathogenic
Disease Bietti crystalline corneoretinal dystrophy not specified not provided
Variation info
Gene FLJ38576 CYP4V2
CLNDBN Bietti crystalline corneoretinal dystrophy not specified not provided
Reversed 1
HGVS NC_000004.11:g.187113041C>G
CLNSRC ClinVar Emory University GeneReviews
CLNACC RCV000032544.2, RCV000082840.4, RCV000132719.1,


GET Evidence
CYP4V2-L22V
aa_change Leu22Val
aa_change_short L22V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.459789
summary