rs2305795

narcolepsy

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	2	1.64x higher risk of narcolepsy compared to (G;G) genotype
(A;G)	2	1.28x higher risk of narcolepsy compared to (G;G) genotype
(G;G)	0	normal risk of narcolepsy

Reference

GRCh38 38.1/141

Chromosome

19

Position

10115376

Gene	EIF3G, PPAN-P2RY11, P2RY11

is a	snp
is	mentioned by
dbSNP	rs2305795
dbSNP (classic)	rs2305795
ClinGen	rs2305795
ebi	rs2305795
HLI	rs2305795
Exac	rs2305795
Gnomad	rs2305795
Varsome	rs2305795
LitVar	rs2305795
Map	rs2305795
PheGenI	rs2305795
Biobank	rs2305795
1000 genomes	rs2305795
hgdp	rs2305795
ensembl	rs2305795
geneview	rs2305795
scholar	rs2305795
google	rs2305795
pharmgkb	rs2305795
gwascentral	rs2305795
openSNP	rs2305795
23andMe	rs2305795
SNPshot	rs2305795
SNPdbe	rs2305795
MSV3d	rs2305795
GWAS Ctlg	rs2305795

GMAF

0.3623

Max Magnitude

2

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

Common variants in P2RY11 are associated with narcolepsy. [PMID 21170044] Found that rs2305795 G allele appears to lower the risk of narcolepsy.

This SNP is also in the intronal area of the EIF3G gene.

[PMID 22177342] TCRA, P2RY11, and CPT1B/CHKB associations in Chinese narcolepsy.

[PMID 25669430] EIF3G is associated with narcolepsy across ethnicities

ClinVar
Risk	Rs2305795(A;A)
Alt	Rs2305795(A;A)
Reference	Rs2305795(G;G)
Significance	Other
Disease	Cataplexy and narcolepsy
Variation	info
Gene	P2RY11 EIF3G PPAN-P2RY11
CLNDBN	Cataplexy and narcolepsy
Reversed	0
HGVS	NC_000019.9:g.10226052G>A
CLNSRC
CLNACC	RCV000161132.1,