rs672601331

Orientation

minus

Stabilized

minus

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

Make rs672601331(-;-)

Make rs672601331(-;TGTTTACTGG)

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

37784742

Gene

EXOSC3

is a	snp
is	mentioned by
dbSNP	rs672601331
dbSNP (classic)	rs672601331
ClinGen	rs672601331
ebi	rs672601331
HLI	rs672601331
Exac	rs672601331
Gnomad	rs672601331
Varsome	rs672601331
LitVar	rs672601331
Map	rs672601331
PheGenI	rs672601331
Biobank	rs672601331
1000 genomes	rs672601331
hgdp	rs672601331
ensembl	rs672601331
geneview	rs672601331
scholar	rs672601331
google	rs672601331
pharmgkb	rs672601331
gwascentral	rs672601331
openSNP	rs672601331
23andMe	rs672601331
SNPshot	rs672601331
SNPdbe	rs672601331
MSV3d	rs672601331
GWAS Ctlg	rs672601331

Max Magnitude

0

ClinVar
Risk	rs672601331(-;-)
Alt	rs672601331(-;-)
Reference	Rs672601331(TGTTTACTGG;TGTTTACTGG)
Significance	Pathogenic
Disease	Pontocerebellar hypoplasia
Variation	info
Gene	EXOSC3
CLNDBN	Pontocerebellar hypoplasia, type 1b
Reversed	1
HGVS	NC_000009.11:g.37784739_37784748delCCAGTAAACA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024368.4,