rs199476194

Orientation

plus

Stabilized

plus

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

Make rs199476194(C;T)

Make rs199476194(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

186201313

Gene

CYP4V2

is a	snp
is	mentioned by
dbSNP	rs199476194
dbSNP (classic)	rs199476194
ClinGen	rs199476194
ebi	rs199476194
HLI	rs199476194
Exac	rs199476194
Gnomad	rs199476194
Varsome	rs199476194
LitVar	rs199476194
Map	rs199476194
PheGenI	rs199476194
Biobank	rs199476194
1000 genomes	rs199476194
hgdp	rs199476194
ensembl	rs199476194
geneview	rs199476194
scholar	rs199476194
google	rs199476194
pharmgkb	rs199476194
gwascentral	rs199476194
openSNP	rs199476194
23andMe	rs199476194
SNPshot	rs199476194
SNPdbe	rs199476194
MSV3d	rs199476194
GWAS Ctlg	rs199476194

Max Magnitude

0

ClinVar
Risk	rs199476194(T;T)
Alt	rs199476194(T;T)
Reference	Rs199476194(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.187122467C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032549.2,