rs587776732

Orientation

plus

Stabilized

minus

Geno	Mag	Summary
(GAA;GAA)	0	common in clinvar
(I;I)	0	common genotype
(TTC;TTC)	0	common in clinvar
(TTCC;TTCC)	0	common in clinvar

Make rs587776732(-;-)

Make rs587776732(-;GAA)

Reference

GRCh38 38.1/142

Chromosome

X

Position

18951135

Gene

PHKA2

is a	snp
is	mentioned by
dbSNP	rs587776732
dbSNP (classic)	rs587776732
ClinGen	rs587776732
ebi	rs587776732
HLI	rs587776732
Exac	rs587776732
Gnomad	rs587776732
Varsome	rs587776732
LitVar	rs587776732
Map	rs587776732
PheGenI	rs587776732
Biobank	rs587776732
1000 genomes	rs587776732
hgdp	rs587776732
ensembl	rs587776732
geneview	rs587776732
scholar	rs587776732
google	rs587776732
pharmgkb	rs587776732
gwascentral	rs587776732
openSNP	rs587776732
23andMe	rs587776732
SNPshot	rs587776732
SNPdbe	rs587776732
MSV3d	rs587776732
GWAS Ctlg	rs587776732

Max Magnitude

0

ClinVar
Risk	Rs587776732(GAA;GAA) rs587776732(-;-)
Alt	Rs587776732(GAA;GAA) rs587776732(-;-)
Reference	Rs587776732(TTC;TTC)
Significance	Pathogenic
Disease	Glycogen storage disease type IXa1
Variation	info
Gene	PHKA2
CLNDBN	Glycogen storage disease type IXa1
Reversed	1
HGVS	NC_000023.10:g.18969253_18969255delGAA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011278.6,