rs587780333

Orientation

minus

Stabilized

minus

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

Make rs587780333(-;-)

Make rs587780333(-;G)

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

37784933

Gene

EXOSC3

is a	snp
is	mentioned by
dbSNP	rs587780333
dbSNP (classic)	rs587780333
ClinGen	rs587780333
ebi	rs587780333
HLI	rs587780333
Exac	rs587780333
Gnomad	rs587780333
Varsome	rs587780333
LitVar	rs587780333
Map	rs587780333
PheGenI	rs587780333
Biobank	rs587780333
1000 genomes	rs587780333
hgdp	rs587780333
ensembl	rs587780333
geneview	rs587780333
scholar	rs587780333
google	rs587780333
pharmgkb	rs587780333
gwascentral	rs587780333
openSNP	rs587780333
23andMe	rs587780333
SNPshot	rs587780333
SNPdbe	rs587780333
MSV3d	rs587780333
GWAS Ctlg	rs587780333

Max Magnitude

0

ClinVar
Risk	rs587780333(-;-)
Alt	rs587780333(-;-)
Reference	Rs587780333(G;G)
Significance	Pathogenic
Disease	Pontocerebellar hypoplasia
Variation	info
Gene	EXOSC3
CLNDBN	Pontocerebellar hypoplasia, type 1b
Reversed	1
HGVS	NC_000009.11:g.37784930delC
CLNSRC
CLNACC	RCV000117004.1,