rs587777572

Orientation

plus

Stabilized

minus

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

Make rs587777572(A;A)

Make rs587777572(A;G)

Reference

GRCh38 38.1/142

Chromosome

2

Position

1649142

Gene

PXDN

is a	snp
is	mentioned by
dbSNP	rs587777572
dbSNP (classic)	rs587777572
ClinGen	rs587777572
ebi	rs587777572
HLI	rs587777572
Exac	rs587777572
Gnomad	rs587777572
Varsome	rs587777572
LitVar	rs587777572
Map	rs587777572
PheGenI	rs587777572
Biobank	rs587777572
1000 genomes	rs587777572
hgdp	rs587777572
ensembl	rs587777572
geneview	rs587777572
scholar	rs587777572
google	rs587777572
pharmgkb	rs587777572
gwascentral	rs587777572
openSNP	rs587777572
23andMe	rs587777572
SNPshot	rs587777572
SNPdbe	rs587777572
MSV3d	rs587777572
GWAS Ctlg	rs587777572

Max Magnitude

0

ClinVar
Risk	rs587777572(A;A) Rs587777572(G;G)
Alt	rs587777572(A;A) Rs587777572(G;G)
Reference	Rs587777572(C;C)
Significance	Pathogenic
Disease	Anterior segment dysgenesis 7
Variation	info
Gene	PXDN
CLNDBN	Anterior segment dysgenesis 7
Reversed	1
HGVS	NC_000002.11:g.1652914G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000128854.3,