rs121918194

Orientation

plus

Stabilized

plus

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

Make rs121918194(A;C)

Make rs121918194(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

48142041

Gene

PFKM

is a	snp
is	mentioned by
dbSNP	rs121918194
dbSNP (classic)	rs121918194
ClinGen	rs121918194
ebi	rs121918194
HLI	rs121918194
Exac	rs121918194
Gnomad	rs121918194
Varsome	rs121918194
LitVar	rs121918194
Map	rs121918194
PheGenI	rs121918194
Biobank	rs121918194
1000 genomes	rs121918194
hgdp	rs121918194
ensembl	rs121918194
geneview	rs121918194
scholar	rs121918194
google	rs121918194
pharmgkb	rs121918194
gwascentral	rs121918194
openSNP	rs121918194
23andMe	rs121918194
SNPshot	rs121918194
SNPdbe	rs121918194
MSV3d	rs121918194
GWAS Ctlg	rs121918194

Max Magnitude

0

OMIM	610681
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121918194(C;C)
Alt	rs121918194(C;C)
Reference	Rs121918194(A;A)
Significance	Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	PFKM
CLNDBN	Glycogen storage disease, type VII
Reversed	0
HGVS	NC_000012.11:g.48535824A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001214.3,