rs8192708

Orientation

plus

Stabilized

plus

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

Make rs8192708(A;G)

Make rs8192708(G;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

57563565

Gene

PCK1

is a	snp
is	mentioned by
dbSNP	rs8192708
dbSNP (classic)	rs8192708
ClinGen	rs8192708
ebi	rs8192708
HLI	rs8192708
Exac	rs8192708
Gnomad	rs8192708
Varsome	rs8192708
LitVar	rs8192708
Map	rs8192708
PheGenI	rs8192708
Biobank	rs8192708
1000 genomes	rs8192708
hgdp	rs8192708
ensembl	rs8192708
geneview	rs8192708
scholar	rs8192708
google	rs8192708
pharmgkb	rs8192708
gwascentral	rs8192708
openSNP	rs8192708
23andMe	rs8192708
SNPshot	rs8192708
SNPdbe	rs8192708
MSV3d	rs8192708
GWAS Ctlg	rs8192708

GMAF

0.06795

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

[PMID 21152065] A Putative Alzheimer's Disease Risk Allele in PCK1 Influences Brain Atrophy in Multiple Sclerosis

[PMID 18780302] Association studies of 22 candidate SNPs with late-onset Alzheimer's disease.

[PMID 18813964] Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta.

[PMID 18830724] Assessment of Alzheimer's disease case-control associations using family-based methods.

[PMID 20574532] Intermediate phenotypes identify divergent pathways to Alzheimer's disease.

ClinVar
Risk	rs8192708(G;G)
Alt	rs8192708(G;G)
Reference	Rs8192708(A;A)
Significance	Probable-non-pathogenic
Disease	Phosphoenolpyruvate carboxykinase (GTP) deficiency
Variation	info
Gene	PCK1
CLNDBN	Phosphoenolpyruvate carboxykinase (GTP) deficiency
Reversed	0
HGVS	NC_000020.10:g.56138621A>G
CLNSRC
CLNACC	RCV000406471.1,