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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
ebirs2228561
HLIrs2228561
Exacrs2228561
Varsomers2228561
Maprs2228561
PheGenIrs2228561
hapmaprs2228561
1000 genomesrs2228561
hgdprs2228561
ensemblrs2228561
gopubmedrs2228561
geneviewrs2228561
scholarrs2228561
googlers2228561
pharmgkbrs2228561
gwascentralrs2228561
openSNPrs2228561
23andMers2228561
23andMe allrs2228561
SNP Nexus

SNPshotrs2228561
SNPdbers2228561
MSV3drs2228561
GWAS Ctlgrs2228561
GMAF0.07208
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene COL7A1
allele A
frequency 0.108
sift TOLERATED
HuRef 1103656089815
Disease Association Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica with subcorneal cleavage (EBDSC) (MIM:607600); also known as epidermolysis bullosa simplex superficialis (EBSS). EBDSC is a new variant of epidermolysis bullosa simplex (EBS), characterized by the development of skin cleavage just beneath the level of stratum corneum. It appears to be transmitted as an autosomal dominant trait and differs from other autosomal dominant forms of EBS by the common findings of milia and atrophic scarring, as well as involvement of oral and/or ocular surfaces. It is further differentiated by the presence of blisters and the absence of spontaneous continual exfoliation or peeling.



[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.


GET Evidence
COL7A1-P595L
aa_change Pro595Leu
aa_change_short P595L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.101506
summary