rs199476204

Orientation

plus

Stabilized

plus

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

Make rs199476204(C;T)

Make rs199476204(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

186209215

Gene

CYP4V2

is a	snp
is	mentioned by
dbSNP	rs199476204
dbSNP (classic)	rs199476204
ClinGen	rs199476204
ebi	rs199476204
HLI	rs199476204
Exac	rs199476204
Gnomad	rs199476204
Varsome	rs199476204
LitVar	rs199476204
Map	rs199476204
PheGenI	rs199476204
Biobank	rs199476204
1000 genomes	rs199476204
hgdp	rs199476204
ensembl	rs199476204
geneview	rs199476204
scholar	rs199476204
google	rs199476204
pharmgkb	rs199476204
gwascentral	rs199476204
openSNP	rs199476204
23andMe	rs199476204
SNPshot	rs199476204
SNPdbe	rs199476204
MSV3d	rs199476204
GWAS Ctlg	rs199476204

Max Magnitude

0

ClinVar
Risk	rs199476204(T;T)
Alt	rs199476204(T;T)
Reference	Rs199476204(C;C)
Significance	Pathogenic
Disease	Bietti crystalline corneoretinal dystrophy
Variation	info
Gene	CYP4V2
CLNDBN	Bietti crystalline corneoretinal dystrophy
Reversed	0
HGVS	NC_000004.11:g.187130369C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032533.4,