rs121964925

Orientation

plus

Stabilized

plus

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

Make rs121964925(C;T)

Make rs121964925(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

134661775

Gene

BPGM

is a	snp
is	mentioned by
dbSNP	rs121964925
dbSNP (classic)	rs121964925
ClinGen	rs121964925
ebi	rs121964925
HLI	rs121964925
Exac	rs121964925
Gnomad	rs121964925
Varsome	rs121964925
LitVar	rs121964925
Map	rs121964925
PheGenI	rs121964925
Biobank	rs121964925
1000 genomes	rs121964925
hgdp	rs121964925
ensembl	rs121964925
geneview	rs121964925
scholar	rs121964925
google	rs121964925
pharmgkb	rs121964925
gwascentral	rs121964925
openSNP	rs121964925
23andMe	rs121964925
SNPshot	rs121964925
SNPdbe	rs121964925
MSV3d	rs121964925
GWAS Ctlg	rs121964925

Max Magnitude

0

OMIM	222800
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121964925(T;T)
Alt	rs121964925(T;T)
Reference	Rs121964925(C;C)
Significance	Pathogenic
Disease	Deficiency of bisphosphoglycerate mutase
Variation	info
Gene	BPGM
CLNDBN	Deficiency of bisphosphoglycerate mutase
Reversed	0
HGVS	NC_000007.13:g.134346527C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012872.4,