rs946616

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs946616(A;A)

Make rs946616(A;G)

Reference

GRCh38 38.1/142

Chromosome

14

Position

50921064

Gene

PYGL

is a	snp
is	mentioned by
dbSNP	rs946616
dbSNP (classic)	rs946616
ClinGen	rs946616
ebi	rs946616
HLI	rs946616
Exac	rs946616
Gnomad	rs946616
Varsome	rs946616
LitVar	rs946616
Map	rs946616
PheGenI	rs946616
Biobank	rs946616
1000 genomes	rs946616
hgdp	rs946616
ensembl	rs946616
geneview	rs946616
scholar	rs946616
google	rs946616
pharmgkb	rs946616
gwascentral	rs946616
openSNP	rs946616
23andMe	rs946616
SNPshot	rs946616
SNPdbe	rs946616
MSV3d	rs946616
GWAS Ctlg	rs946616

GMAF

0.08724

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	rs946616(A;A)
Alt	rs946616(A;A)
Reference	Rs946616(G;G)
Significance	Probable-non-pathogenic
Disease	not specified Glycogen storage disease
Variation	info
Gene	PYGL
CLNDBN	not specified Glycogen storage disease, type VI
Reversed	1
HGVS	NC_000014.8:g.51387782C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000244117.1, RCV000268404.1,