rs143523371

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	Carrier of a glycogen storage disease II mutation
(G;G)	0	common in clinvar

Make rs143523371(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

17

Position

80105132

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs143523371
dbSNP (classic)	rs143523371
ClinGen	rs143523371
ebi	rs143523371
HLI	rs143523371
Exac	rs143523371
Gnomad	rs143523371
Varsome	rs143523371
LitVar	rs143523371
Map	rs143523371
PheGenI	rs143523371
Biobank	rs143523371
1000 genomes	rs143523371
hgdp	rs143523371
ensembl	rs143523371
geneview	rs143523371
scholar	rs143523371
google	rs143523371
pharmgkb	rs143523371
gwascentral	rs143523371
openSNP	rs143523371
23andMe	rs143523371
SNPshot	rs143523371
SNPdbe	rs143523371
MSV3d	rs143523371
GWAS Ctlg	rs143523371

Max Magnitude

3

ClinVar
Risk	rs143523371(A;A) rs143523371(C;C) rs143523371(T;T)
Alt	rs143523371(A;A) rs143523371(C;C) rs143523371(T;T)
Reference	Rs143523371(G;G)
Significance	Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78078931G>A; NC_000017.10:g.78078931G>C; NC_000017.10:g.78078931G>T
CLNSRC
CLNACC	RCV000385549.2, RCV000361874.1, RCV000410156.1,