rs1131017

Orientation

plus

Stabilized

plus

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

Make rs1131017(C;G)

Make rs1131017(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

56042145

Gene	LOC105369780, RPS26

is a	snp
is	mentioned by
dbSNP	rs1131017
dbSNP (classic)	rs1131017
ClinGen	rs1131017
ebi	rs1131017
HLI	rs1131017
Exac	rs1131017
Gnomad	rs1131017
Varsome	rs1131017
LitVar	rs1131017
Map	rs1131017
PheGenI	rs1131017
Biobank	rs1131017
1000 genomes	rs1131017
hgdp	rs1131017
ensembl	rs1131017
geneview	rs1131017
scholar	rs1131017
google	rs1131017
pharmgkb	rs1131017
gwascentral	rs1131017
openSNP	rs1131017
23andMe	rs1131017
SNPshot	rs1131017
SNPdbe	rs1131017
MSV3d	rs1131017
GWAS Ctlg	rs1131017

GMAF

0.4509

Max Magnitude

0

?	(C;C) (C;G) (G;G)	28

[PMID 23900168] Genome-wide search for exonic variants affecting translational efficiency

[PMID 19039033] Statistical independence of the colocalized association signals for type 1 diabetes and RPS26 gene expression on chromosome 12q13.

[PMID 20668683] Genetically dependent ERBB3 expression modulates antigen presenting cell function and type 1 diabetes risk.

ClinVar
Risk	rs1131017(G;G) rs1131017(T;T)
Alt	rs1131017(G;G) rs1131017(T;T)
Reference	Rs1131017(C;C)
Significance	Non-pathogenic
Disease	Diamond-Blackfan anemia
Variation	info
Gene	RPS26
CLNDBN	Diamond-Blackfan anemia
Reversed	0
HGVS	NC_000012.11:g.56435929C>G
CLNSRC
CLNACC	RCV000363232.1,