rs587777573

Orientation

plus

Stabilized

minus

Geno	Mag	Summary
(GGACACCAGGCGCGGCATGGGAA;GGACACCAGGCGCGGCATGGGAA)	0	common in clinvar
(I;I)	0	common genotype
(TTCCCATGCCGCGCCTGGTGTCC;TTCCCATGCCGCGCCTGGTGTCC)	0	common in clinvar
(TTCCCATGCCGCGCCTGGTGTCCA;TTCCCATGCCGCGCCTGGTGTCCA)	0	common in clinvar

Make rs587777573(-;-)

Make rs587777573(-;GGACACCAGGCGCGGCATGGGAA)

Reference

GRCh38 38.1/142

Chromosome

2

Position

1649383

Gene

PXDN

is a	snp
is	mentioned by
dbSNP	rs587777573
dbSNP (classic)	rs587777573
ClinGen	rs587777573
ebi	rs587777573
HLI	rs587777573
Exac	rs587777573
Gnomad	rs587777573
Varsome	rs587777573
LitVar	rs587777573
Map	rs587777573
PheGenI	rs587777573
Biobank	rs587777573
1000 genomes	rs587777573
hgdp	rs587777573
ensembl	rs587777573
geneview	rs587777573
scholar	rs587777573
google	rs587777573
pharmgkb	rs587777573
gwascentral	rs587777573
openSNP	rs587777573
23andMe	rs587777573
SNPshot	rs587777573
SNPdbe	rs587777573
MSV3d	rs587777573
GWAS Ctlg	rs587777573

Max Magnitude

0

ClinVar
Risk	Rs587777573(GGACACCAGGCGCGGCATGGGAA;GGACACCAGGCGCGGCATGGGAA) rs587777573(-;-)
Alt	Rs587777573(GGACACCAGGCGCGGCATGGGAA;GGACACCAGGCGCGGCATGGGAA) rs587777573(-;-)
Reference	Rs587777573(TTCCCATGCCGCGCCTGGTGTCC;TTCCCATGCCGCGCCTGGTGTCC)
Significance	Pathogenic
Disease	Anterior segment dysgenesis 7
Variation	info
Gene	PXDN
CLNDBN	Anterior segment dysgenesis 7
Reversed	1
HGVS	NC_000002.11:g.1653155_1653177del23
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000128856.4,