rs797046055

Orientation

plus

Stabilized

plus

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

Make rs797046055(-;C)

Make rs797046055(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

75523746

Gene	LLGL2, LOC107985023, TSEN54

is a	snp
is	mentioned by
dbSNP	rs797046055
dbSNP (classic)	rs797046055
ClinGen	rs797046055
ebi	rs797046055
HLI	rs797046055
Exac	rs797046055
Gnomad	rs797046055
Varsome	rs797046055
LitVar	rs797046055
Map	rs797046055
PheGenI	rs797046055
Biobank	rs797046055
1000 genomes	rs797046055
hgdp	rs797046055
ensembl	rs797046055
geneview	rs797046055
scholar	rs797046055
google	rs797046055
pharmgkb	rs797046055
gwascentral	rs797046055
openSNP	rs797046055
23andMe	rs797046055
SNPshot	rs797046055
SNPdbe	rs797046055
MSV3d	rs797046055
GWAS Ctlg	rs797046055

Max Magnitude

0

ClinVar
Risk	rs797046055(C;C)
Alt	rs797046055(C;C)
Reference	Rs797046055(-;-)
Significance	Pathogenic
Disease	Pontocerebellar hypoplasia type 2A
Variation	info
Gene	TSEN54 LLGL2
CLNDBN	Pontocerebellar hypoplasia type 2A
Reversed	0
HGVS	NC_000017.10:g.73519827dupC
CLNSRC
CLNACC	RCV000194772.1,