rs121918193

Orientation

plus

Stabilized

plus

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

Make rs121918193(C;C)

Make rs121918193(C;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

48130393

Gene

PFKM

is a	snp
is	mentioned by
dbSNP	rs121918193
dbSNP (classic)	rs121918193
ClinGen	rs121918193
ebi	rs121918193
HLI	rs121918193
Exac	rs121918193
Gnomad	rs121918193
Varsome	rs121918193
LitVar	rs121918193
Map	rs121918193
PheGenI	rs121918193
Biobank	rs121918193
1000 genomes	rs121918193
hgdp	rs121918193
ensembl	rs121918193
geneview	rs121918193
scholar	rs121918193
google	rs121918193
pharmgkb	rs121918193
gwascentral	rs121918193
openSNP	rs121918193
23andMe	rs121918193
SNPshot	rs121918193
SNPdbe	rs121918193
MSV3d	rs121918193
GWAS Ctlg	rs121918193

Max Magnitude

0

OMIM	610681
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121918193(A;A) rs121918193(C;C) rs121918193(T;T)
Alt	rs121918193(A;A) rs121918193(C;C) rs121918193(T;T)
Reference	Rs121918193(G;G)
Significance	Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	PFKM
CLNDBN	Glycogen storage disease, type VII
Reversed	0
HGVS	NC_000012.11:g.48524176G>C; NC_000012.11:g.48524176G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001213.3, RCV000001216.3,