rs74315362

Orientation

minus

Stabilized

minus

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

Make rs74315362(C;T)

Make rs74315362(T;T)

Reference

GRCh37 37.1/132

Chromosome

1

Position

155293556

Gene

PKLR

is a	snp
is	mentioned by
dbSNP	rs74315362
dbSNP (classic)	rs74315362
ClinGen	rs74315362
ebi	rs74315362
HLI	rs74315362
Exac	rs74315362
Gnomad	rs74315362
Varsome	rs74315362
LitVar	rs74315362
Map	rs74315362
PheGenI	rs74315362
Biobank	rs74315362
1000 genomes	rs74315362
hgdp	rs74315362
ensembl	rs74315362
geneview	rs74315362
scholar	rs74315362
google	rs74315362
pharmgkb	rs74315362
gwascentral	rs74315362
openSNP	rs74315362
23andMe	rs74315362
SNPshot	rs74315362
SNPdbe	rs74315362
MSV3d	rs74315362
GWAS Ctlg	rs74315362

Max Magnitude

0

OMIM	609712
Desc
Variant	0003
Related	also

OMIM	609712
Desc
Variant	0004
Related	also

ClinVar
Risk	rs74315362(T;T)
Alt	rs74315362(T;T)
Reference	Rs74315362(C;C)
Significance	Pathogenic
Disease	Pyruvate kinase deficiency of red cells
Variation	info
Gene	PKLR
CLNDBN	Pyruvate kinase deficiency of red cells
Reversed	1
HGVS	NC_000001.10:g.155263347G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001572.3,