rs1057517001

Orientation

minus

Stabilized

minus

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

Make rs1057517001(A;A)

Make rs1057517001(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

64746948

Gene	PYGM, RASGRP2

is a	snp
is	mentioned by
dbSNP	rs1057517001
dbSNP (classic)	rs1057517001
ClinGen	rs1057517001
ebi	rs1057517001
HLI	rs1057517001
Exac	rs1057517001
Gnomad	rs1057517001
Varsome	rs1057517001
LitVar	rs1057517001
Map	rs1057517001
PheGenI	rs1057517001
Biobank	rs1057517001
1000 genomes	rs1057517001
hgdp	rs1057517001
ensembl	rs1057517001
geneview	rs1057517001
scholar	rs1057517001
google	rs1057517001
pharmgkb	rs1057517001
gwascentral	rs1057517001
openSNP	rs1057517001
23andMe	rs1057517001
SNPshot	rs1057517001
SNPdbe	rs1057517001
MSV3d	rs1057517001
GWAS Ctlg	rs1057517001

Max Magnitude

0

ClinVar
Risk	rs1057517001(A;A)
Alt	rs1057517001(A;A)
Reference	Rs1057517001(C;C)
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.64514420G>T
CLNSRC
CLNACC	RCV000409053.1,