rs199476193

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs199476193(A;G)

Make rs199476193(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

186199043

Gene

CYP4V2

is a	snp
is	mentioned by
dbSNP	rs199476193
dbSNP (classic)	rs199476193
ClinGen	rs199476193
ebi	rs199476193
HLI	rs199476193
Exac	rs199476193
Gnomad	rs199476193
Varsome	rs199476193
LitVar	rs199476193
Map	rs199476193
PheGenI	rs199476193
Biobank	rs199476193
1000 genomes	rs199476193
hgdp	rs199476193
ensembl	rs199476193
geneview	rs199476193
scholar	rs199476193
google	rs199476193
pharmgkb	rs199476193
gwascentral	rs199476193
openSNP	rs199476193
23andMe	rs199476193
SNPshot	rs199476193
SNPdbe	rs199476193
MSV3d	rs199476193
GWAS Ctlg	rs199476193

Max Magnitude

0

ClinVar
Risk	rs199476193(G;G)
Alt	rs199476193(G;G)
Reference	Rs199476193(A;A)
Significance	Pathogenic
Disease	Bietti crystalline corneoretinal dystrophy
Variation	info
Gene	CYP4V2
CLNDBN	Bietti crystalline corneoretinal dystrophy
Reversed	0
HGVS	NC_000004.11:g.187120197A>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032547.2,