rs202143236

Orientation

plus

Stabilized

plus

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

Make rs202143236(A;A)

Make rs202143236(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

48131394

Gene	MIR6505, PFKM

is a	snp
is	mentioned by
dbSNP	rs202143236
dbSNP (classic)	rs202143236
ClinGen	rs202143236
ebi	rs202143236
HLI	rs202143236
Exac	rs202143236
Gnomad	rs202143236
Varsome	rs202143236
LitVar	rs202143236
Map	rs202143236
PheGenI	rs202143236
Biobank	rs202143236
1000 genomes	rs202143236
hgdp	rs202143236
ensembl	rs202143236
geneview	rs202143236
scholar	rs202143236
google	rs202143236
pharmgkb	rs202143236
gwascentral	rs202143236
openSNP	rs202143236
23andMe	rs202143236
SNPshot	rs202143236
SNPdbe	rs202143236
MSV3d	rs202143236
GWAS Ctlg	rs202143236

Max Magnitude

0

ClinVar
Risk	rs202143236(A;A)
Alt	rs202143236(A;A)
Reference	Rs202143236(G;G)
Significance	Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	PFKM MIR6505
CLNDBN	Glycogen storage disease, type VII
Reversed	0
HGVS	NC_000012.11:g.48525177G>A
CLNSRC
CLNACC	RCV000169670.1,