rs119103283

Orientation

plus

Stabilized

plus

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

Make rs119103283(C;C)

Make rs119103283(C;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

186196007

Gene

CYP4V2

is a	snp
is	mentioned by
dbSNP	rs119103283
dbSNP (classic)	rs119103283
ClinGen	rs119103283
ebi	rs119103283
HLI	rs119103283
Exac	rs119103283
Gnomad	rs119103283
Varsome	rs119103283
LitVar	rs119103283
Map	rs119103283
PheGenI	rs119103283
Biobank	rs119103283
1000 genomes	rs119103283
hgdp	rs119103283
ensembl	rs119103283
geneview	rs119103283
scholar	rs119103283
google	rs119103283
pharmgkb	rs119103283
gwascentral	rs119103283
openSNP	rs119103283
23andMe	rs119103283
SNPshot	rs119103283
SNPdbe	rs119103283
MSV3d	rs119103283
GWAS Ctlg	rs119103283

Max Magnitude

0

OMIM	608614
Desc
Variant	0002
Related	also

ClinVar
Risk	rs119103283(C;C) rs119103283(G;G)
Alt	rs119103283(C;C) rs119103283(G;G)
Reference	Rs119103283(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.187117161T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002272.5,