rs119103282

Orientation

plus

Stabilized

plus

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

Make rs119103282(A;A)

Make rs119103282(A;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

186191953

Gene	CYP4V2, FLJ38576

is a	snp
is	mentioned by
dbSNP	rs119103282
dbSNP (classic)	rs119103282
ClinGen	rs119103282
ebi	rs119103282
HLI	rs119103282
Exac	rs119103282
Gnomad	rs119103282
Varsome	rs119103282
LitVar	rs119103282
Map	rs119103282
PheGenI	rs119103282
Biobank	rs119103282
1000 genomes	rs119103282
hgdp	rs119103282
ensembl	rs119103282
geneview	rs119103282
scholar	rs119103282
google	rs119103282
pharmgkb	rs119103282
gwascentral	rs119103282
openSNP	rs119103282
23andMe	rs119103282
SNPshot	rs119103282
SNPdbe	rs119103282
MSV3d	rs119103282
GWAS Ctlg	rs119103282

Max Magnitude

0

OMIM	608614
Desc
Variant	0001
Related	also

ClinVar
Risk	rs119103282(A;A) rs119103282(C;C)
Alt	rs119103282(A;A) rs119103282(C;C)
Reference	Rs119103282(T;T)
Significance	Pathogenic
Disease	Bietti crystalline corneoretinal dystrophy
Variation	info
Gene	FLJ38576 CYP4V2
CLNDBN	Bietti crystalline corneoretinal dystrophy
Reversed	0
HGVS	NC_000004.11:g.187113107T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002271.4,