rs80358301

Orientation

minus

Stabilized

minus

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

Make rs80358301(-;-)

Make rs80358301(-;GTGGAT)

Reference

GRCh38 38.1/141

Chromosome

11

Position

86951272

Gene	FZD4, PRSS23

is a	snp
is	mentioned by
dbSNP	rs80358301
dbSNP (classic)	rs80358301
ClinGen	rs80358301
ebi	rs80358301
HLI	rs80358301
Exac	rs80358301
Gnomad	rs80358301
Varsome	rs80358301
LitVar	rs80358301
Map	rs80358301
PheGenI	rs80358301
Biobank	rs80358301
1000 genomes	rs80358301
hgdp	rs80358301
ensembl	rs80358301
geneview	rs80358301
scholar	rs80358301
google	rs80358301
pharmgkb	rs80358301
gwascentral	rs80358301
openSNP	rs80358301
23andMe	rs80358301
SNPshot	rs80358301
SNPdbe	rs80358301
MSV3d	rs80358301
GWAS Ctlg	rs80358301

Max Magnitude

0

OMIM	604579
Desc
Variant	0001
Related	also

ClinVar
Risk	rs80358301(-;-)
Alt	rs80358301(-;-)
Reference	Rs80358301(GTGGAT;GTGGAT)
Significance	Pathogenic
Disease	Exudative vitreoretinopathy 1 not provided
Variation	info
Gene	PRSS23 FZD4
CLNDBN	Exudative vitreoretinopathy 1 not provided
Reversed	1
HGVS	NC_000011.9:g.86662314_86662319delATCCAC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005818.2, RCV000478323.1,

[PMID 12172548] Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy.