rs797046054

Orientation

plus

Stabilized

plus

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

Make rs797046054(-;TA)

Make rs797046054(TA;TA)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

75523735

Gene	LLGL2, LOC107985023, TSEN54

is a	snp
is	mentioned by
dbSNP	rs797046054
dbSNP (classic)	rs797046054
ClinGen	rs797046054
ebi	rs797046054
HLI	rs797046054
Exac	rs797046054
Gnomad	rs797046054
Varsome	rs797046054
LitVar	rs797046054
Map	rs797046054
PheGenI	rs797046054
Biobank	rs797046054
1000 genomes	rs797046054
hgdp	rs797046054
ensembl	rs797046054
geneview	rs797046054
scholar	rs797046054
google	rs797046054
pharmgkb	rs797046054
gwascentral	rs797046054
openSNP	rs797046054
23andMe	rs797046054
SNPshot	rs797046054
SNPdbe	rs797046054
MSV3d	rs797046054
GWAS Ctlg	rs797046054

Max Magnitude

0

ClinVar
Risk	rs797046054(AT;AT)
Alt	rs797046054(AT;AT)
Reference	Rs797046054(-;-)
Significance	Pathogenic
Disease	Pontocerebellar hypoplasia type 2A
Variation	info
Gene	TSEN54 LLGL2
CLNDBN	Pontocerebellar hypoplasia type 2A
Reversed	0
HGVS	NC_000017.10:g.73519816_73519817insTA
CLNSRC
CLNACC	RCV000193727.1,