rs431905502

Orientation

plus

Stabilized

plus

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

Make rs431905502(-;-)

Make rs431905502(-;AAG)

Make rs431905502(AAG;AAG)

Reference

GRCh38 38.1/142

Chromosome

X

Position

78118103

Gene

PGK1

is a	snp
is	mentioned by
dbSNP	rs431905502
dbSNP (classic)	rs431905502
ClinGen	rs431905502
ebi	rs431905502
HLI	rs431905502
Exac	rs431905502
Gnomad	rs431905502
Varsome	rs431905502
LitVar	rs431905502
Map	rs431905502
PheGenI	rs431905502
Biobank	rs431905502
1000 genomes	rs431905502
hgdp	rs431905502
ensembl	rs431905502
geneview	rs431905502
scholar	rs431905502
google	rs431905502
pharmgkb	rs431905502
gwascentral	rs431905502
openSNP	rs431905502
23andMe	rs431905502
SNPshot	rs431905502
SNPdbe	rs431905502
MSV3d	rs431905502
GWAS Ctlg	rs431905502

Max Magnitude

0

ClinVar
Risk	rs431905502(-;-)
Alt	rs431905502(-;-)
Reference	Rs431905502(GAA;GAA)
Significance	Pathogenic
Disease	Phosphoglycerate kinase 1 deficiency
Variation	info
Gene	PGK1
CLNDBN	Phosphoglycerate kinase 1 deficiency
Reversed	0
HGVS	NC_000023.10:g.77373600_77373602delAAG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010627.4,