rs118204085

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs118204085(A;A)

Make rs118204085(A;G)

Reference

GRCh38 38.1/142

Chromosome

1

Position

155293177

Gene

PKLR

is a	snp
is	mentioned by
dbSNP	rs118204085
dbSNP (classic)	rs118204085
ClinGen	rs118204085
ebi	rs118204085
HLI	rs118204085
Exac	rs118204085
Gnomad	rs118204085
Varsome	rs118204085
LitVar	rs118204085
Map	rs118204085
PheGenI	rs118204085
Biobank	rs118204085
1000 genomes	rs118204085
hgdp	rs118204085
ensembl	rs118204085
geneview	rs118204085
scholar	rs118204085
google	rs118204085
pharmgkb	rs118204085
gwascentral	rs118204085
openSNP	rs118204085
23andMe	rs118204085
SNPshot	rs118204085
SNPdbe	rs118204085
MSV3d	rs118204085
GWAS Ctlg	rs118204085

Max Magnitude

0

OMIM	609712
Desc
Variant	0006
Related	also

ClinVar
Risk	rs118204085(A;A)
Alt	rs118204085(A;A)
Reference	Rs118204085(G;G)
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.155262968C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001574.2,