rs1057516612

Orientation

minus

Stabilized

minus

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

Make rs1057516612(GGAG;TGA)

Make rs1057516612(TGA;TGA)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

64752493

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs1057516612
dbSNP (classic)	rs1057516612
ClinGen	rs1057516612
ebi	rs1057516612
HLI	rs1057516612
Exac	rs1057516612
Gnomad	rs1057516612
Varsome	rs1057516612
LitVar	rs1057516612
Map	rs1057516612
PheGenI	rs1057516612
Biobank	rs1057516612
1000 genomes	rs1057516612
hgdp	rs1057516612
ensembl	rs1057516612
geneview	rs1057516612
scholar	rs1057516612
google	rs1057516612
pharmgkb	rs1057516612
gwascentral	rs1057516612
openSNP	rs1057516612
23andMe	rs1057516612
SNPshot	rs1057516612
SNPdbe	rs1057516612
MSV3d	rs1057516612
GWAS Ctlg	rs1057516612

Max Magnitude

0

ClinVar
Risk	rs1057516612(TGA;TGA)
Alt	rs1057516612(TGA;TGA)
Reference	Rs1057516612(GGAG;GGAG)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	PYGM
CLNDBN	Glycogen storage disease, type V
Reversed	1
HGVS	NC_000011.9:g.64519965_64519968delCTCCinsTCA
CLNSRC
CLNACC	RCV000409188.1,