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rs2228563

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs2228563(A;A)
Make rs2228563(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position48586607
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs2228563
ebirs2228563
HLIrs2228563
Exacrs2228563
Varsomers2228563
Maprs2228563
PheGenIrs2228563
hapmaprs2228563
1000 genomesrs2228563
hgdprs2228563
ensemblrs2228563
gopubmedrs2228563
geneviewrs2228563
scholarrs2228563
googlers2228563
pharmgkbrs2228563
gwascentralrs2228563
openSNPrs2228563
23andMers2228563
23andMe allrs2228563
SNP Nexus

SNPshotrs2228563
SNPdbers2228563
MSV3drs2228563
GWAS Ctlgrs2228563
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene COL7A1
allele T
frequency 0
sift TOLERATED
HuRef 1103656089821
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.