rs199476199

Orientation

plus

Stabilized

plus

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

Make rs199476199(C;C)

Make rs199476199(C;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

186205233

Gene

CYP4V2

is a	snp
is	mentioned by
dbSNP	rs199476199
dbSNP (classic)	rs199476199
ClinGen	rs199476199
ebi	rs199476199
HLI	rs199476199
Exac	rs199476199
Gnomad	rs199476199
Varsome	rs199476199
LitVar	rs199476199
Map	rs199476199
PheGenI	rs199476199
Biobank	rs199476199
1000 genomes	rs199476199
hgdp	rs199476199
ensembl	rs199476199
geneview	rs199476199
scholar	rs199476199
google	rs199476199
pharmgkb	rs199476199
gwascentral	rs199476199
openSNP	rs199476199
23andMe	rs199476199
SNPshot	rs199476199
SNPdbe	rs199476199
MSV3d	rs199476199
GWAS Ctlg	rs199476199

Max Magnitude

0

ClinVar
Risk	rs199476199(C;C)
Alt	rs199476199(C;C)
Reference	Rs199476199(T;T)
Significance	Pathogenic
Disease	Bietti crystalline corneoretinal dystrophy
Variation	info
Gene	CYP4V2
CLNDBN	Bietti crystalline corneoretinal dystrophy
Reversed	0
HGVS	NC_000004.11:g.187126387T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000032526.2,