rs121918195

Orientation

plus

Stabilized

plus

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

Make rs121918195(C;T)

Make rs121918195(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

48132913

Gene	MIR6505, PFKM

is a	snp
is	mentioned by
dbSNP	rs121918195
dbSNP (classic)	rs121918195
ClinGen	rs121918195
ebi	rs121918195
HLI	rs121918195
Exac	rs121918195
Gnomad	rs121918195
Varsome	rs121918195
LitVar	rs121918195
Map	rs121918195
PheGenI	rs121918195
Biobank	rs121918195
1000 genomes	rs121918195
hgdp	rs121918195
ensembl	rs121918195
geneview	rs121918195
scholar	rs121918195
google	rs121918195
pharmgkb	rs121918195
gwascentral	rs121918195
openSNP	rs121918195
23andMe	rs121918195
SNPshot	rs121918195
SNPdbe	rs121918195
MSV3d	rs121918195
GWAS Ctlg	rs121918195

Max Magnitude

0

OMIM	610681
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121918195(T;T)
Alt	rs121918195(T;T)
Reference	Rs121918195(C;C)
Significance	Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	PFKM MIR6505
CLNDBN	Glycogen storage disease, type VII
Reversed	0
HGVS	NC_000012.11:g.48526696C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001217.3,