rs207482233

Orientation

plus

Stabilized

plus

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

Make rs207482233(GC;GC)

Make rs207482233(GC;TCATACAGGTCATCGCT)

Reference

GRCh38 38.1/141

Chromosome

4

Position

186201149

Gene

CYP4V2

is a	snp
is	mentioned by
dbSNP	rs207482233
dbSNP (classic)	rs207482233
ClinGen	rs207482233
ebi	rs207482233
HLI	rs207482233
Exac	rs207482233
Gnomad	rs207482233
Varsome	rs207482233
LitVar	rs207482233
Map	rs207482233
PheGenI	rs207482233
Biobank	rs207482233
1000 genomes	rs207482233
hgdp	rs207482233
ensembl	rs207482233
geneview	rs207482233
scholar	rs207482233
google	rs207482233
pharmgkb	rs207482233
gwascentral	rs207482233
openSNP	rs207482233
23andMe	rs207482233
SNPshot	rs207482233
SNPdbe	rs207482233
MSV3d	rs207482233
GWAS Ctlg	rs207482233

Max Magnitude

0

ClinVar
Risk	rs207482233(GC;GC)
Alt	rs207482233(GC;GC)
Reference	Rs207482233(TCATACAGGTCATCGCT;TCATACAGGTCATCGCT)
Significance	Pathogenic
Disease	Bietti crystalline corneoretinal dystrophy Corneal Dystrophy
Variation	info
Gene	CYP4V2
CLNDBN	Bietti crystalline corneoretinal dystrophy Corneal Dystrophy, Recessive
Reversed	0
HGVS	NC_000004.11:g.187122303_187122319del17insGC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032548.6, RCV000355196.1,