rs119103285

Orientation

plus

Stabilized

plus

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

Make rs119103285(A;A)

Make rs119103285(A;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

186192004

Gene	CYP4V2, FLJ38576

is a	snp
is	mentioned by
dbSNP	rs119103285
dbSNP (classic)	rs119103285
ClinGen	rs119103285
ebi	rs119103285
HLI	rs119103285
Exac	rs119103285
Gnomad	rs119103285
Varsome	rs119103285
LitVar	rs119103285
Map	rs119103285
PheGenI	rs119103285
Biobank	rs119103285
1000 genomes	rs119103285
hgdp	rs119103285
ensembl	rs119103285
geneview	rs119103285
scholar	rs119103285
google	rs119103285
pharmgkb	rs119103285
gwascentral	rs119103285
openSNP	rs119103285
23andMe	rs119103285
SNPshot	rs119103285
SNPdbe	rs119103285
MSV3d	rs119103285
GWAS Ctlg	rs119103285

Max Magnitude

0

OMIM	608614
Desc
Variant	0004
Related	also

ClinVar
Risk	rs119103285(A;A)
Alt	rs119103285(A;A)
Reference	Rs119103285(G;G)
Significance	Pathogenic
Disease	Bietti crystalline corneoretinal dystrophy
Variation	info
Gene	FLJ38576 CYP4V2
CLNDBN	Bietti crystalline corneoretinal dystrophy
Reversed	0
HGVS	NC_000004.11:g.187113158G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002274.4,