rs1055138

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

4

Position

186191887

Gene	CYP4V2, FLJ38576

is a	snp
is	mentioned by
dbSNP	rs1055138
dbSNP (classic)	rs1055138
ClinGen	rs1055138
ebi	rs1055138
HLI	rs1055138
Exac	rs1055138
Gnomad	rs1055138
Varsome	rs1055138
LitVar	rs1055138
Map	rs1055138
PheGenI	rs1055138
Biobank	rs1055138
1000 genomes	rs1055138
hgdp	rs1055138
ensembl	rs1055138
geneview	rs1055138
scholar	rs1055138
google	rs1055138
pharmgkb	rs1055138
gwascentral	rs1055138
openSNP	rs1055138
23andMe	rs1055138
SNPshot	rs1055138
SNPdbe	rs1055138
MSV3d	rs1055138
GWAS Ctlg	rs1055138

GMAF

0.438

Max Magnitude

0.5

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	Other
Disease	Bietti crystalline corneoretinal dystrophy not specified not provided Corneal Dystrophy
Variation	info
Gene	FLJ38576 CYP4V2
CLNDBN	Bietti crystalline corneoretinal dystrophy not specified not provided Corneal Dystrophy, Recessive
Reversed	1
HGVS	NC_000004.11:g.187113041C>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000032544.3, RCV000082840.5, RCV000132719.1, RCV000278726.1,