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rs2228561

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common on affy axiom data
(G;G) 0
(T;T)
Make rs2228561(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position48590581
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs2228561
dbSNP (old)rs2228561
ClinGenrs2228561
ebirs2228561
HLIrs2228561
Exacrs2228561
Gnomadrs2228561
Varsomers2228561
LitVarrs2228561
Maprs2228561
PheGenIrs2228561
Biobankrs2228561
1000 genomesrs2228561
hgdprs2228561
ensemblrs2228561
gopubmedrs2228561
geneviewrs2228561
scholarrs2228561
googlers2228561
pharmgkbrs2228561
gwascentralrs2228561
openSNPrs2228561
23andMers2228561
23andMe allrs2228561
SNPshotrs2228561
SNPdbers2228561
MSV3drs2228561
GWAS Ctlgrs2228561
GMAF0.07208
Max Magnitude0
? (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,