rs1057516529

Orientation

minus

Stabilized

minus

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

Make rs1057516529(G;T)

Make rs1057516529(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

64746660

Gene	PYGM, RASGRP2

is a	snp
is	mentioned by
dbSNP	rs1057516529
dbSNP (classic)	rs1057516529
ClinGen	rs1057516529
ebi	rs1057516529
HLI	rs1057516529
Exac	rs1057516529
Gnomad	rs1057516529
Varsome	rs1057516529
LitVar	rs1057516529
Map	rs1057516529
PheGenI	rs1057516529
Biobank	rs1057516529
1000 genomes	rs1057516529
hgdp	rs1057516529
ensembl	rs1057516529
geneview	rs1057516529
scholar	rs1057516529
google	rs1057516529
pharmgkb	rs1057516529
gwascentral	rs1057516529
openSNP	rs1057516529
23andMe	rs1057516529
SNPshot	rs1057516529
SNPdbe	rs1057516529
MSV3d	rs1057516529
GWAS Ctlg	rs1057516529

Max Magnitude

0

ClinVar
Risk	rs1057516529(T;T)
Alt	rs1057516529(T;T)
Reference	Rs1057516529(G;G)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	PYGM RASGRP2
CLNDBN	Glycogen storage disease, type V
Reversed	1
HGVS	NC_000011.9:g.64514132C>A
CLNSRC
CLNACC	RCV000409749.1,