rs2228561

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common on affy axiom data
(G;G)	0
(T;T)

Make rs2228561(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48590581

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs2228561
dbSNP (classic)	rs2228561
ClinGen	rs2228561
ebi	rs2228561
HLI	rs2228561
Exac	rs2228561
Gnomad	rs2228561
Varsome	rs2228561
LitVar	rs2228561
Map	rs2228561
PheGenI	rs2228561
Biobank	rs2228561
1000 genomes	rs2228561
hgdp	rs2228561
ensembl	rs2228561
geneview	rs2228561
scholar	rs2228561
google	rs2228561
pharmgkb	rs2228561
gwascentral	rs2228561
openSNP	rs2228561
23andMe	rs2228561
SNPshot	rs2228561
SNPdbe	rs2228561
MSV3d	rs2228561
GWAS Ctlg	rs2228561

GMAF

0.07208

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

[PMID 8739924] Laboratory chow-induced insulin resistance: a possible contributor to autoimmune type 1 diabetes in rodents.

[PMID 22095239] Common variation in oxidative phosphorylation genes is not a major cause of insulin resistance or type 2 diabetes.

ClinVar
Risk	Rs2228561(T;T)
Alt	Rs2228561(T;T)
Reference	Rs2228561(C;C)
Significance	Non-pathogenic
Disease	not specified Dystrophic epidermolysis bullosa
Variation	info
Gene	COL7A1
CLNDBN	not specified Dystrophic epidermolysis bullosa
Reversed	1
HGVS	NC_000003.11:g.48628014G>A
CLNSRC
CLNACC	RCV000252599.1, RCV000366293.1,