rs587777391

Orientation

plus

Stabilized

plus

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

Make rs587777391(-;-)

Make rs587777391(-;G)

Reference

GRCh38 38.1/142

Chromosome

1

Position

109628727

Gene

AMPD2

is a	snp
is	mentioned by
dbSNP	rs587777391
dbSNP (classic)	rs587777391
ClinGen	rs587777391
ebi	rs587777391
HLI	rs587777391
Exac	rs587777391
Gnomad	rs587777391
Varsome	rs587777391
LitVar	rs587777391
Map	rs587777391
PheGenI	rs587777391
Biobank	rs587777391
1000 genomes	rs587777391
hgdp	rs587777391
ensembl	rs587777391
geneview	rs587777391
scholar	rs587777391
google	rs587777391
pharmgkb	rs587777391
gwascentral	rs587777391
openSNP	rs587777391
23andMe	rs587777391
SNPshot	rs587777391
SNPdbe	rs587777391
MSV3d	rs587777391
GWAS Ctlg	rs587777391

Max Magnitude

0

ClinVar
Risk	rs587777391(-;-)
Alt	rs587777391(-;-)
Reference	Rs587777391(G;G)
Significance	Pathogenic
Disease	Pontocerebellar hypoplasia
Variation	info
Gene	AMPD2
CLNDBN	Pontocerebellar hypoplasia, type 9
Reversed	0
HGVS	NC_000001.10:g.110171349delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000119278.3,