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rs35623035

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs35623035(A;A)
Make rs35623035(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position48592819
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs35623035
ebirs35623035
HLIrs35623035
Exacrs35623035
Varsomers35623035
Maprs35623035
PheGenIrs35623035
hapmaprs35623035
1000 genomesrs35623035
hgdprs35623035
ensemblrs35623035
gopubmedrs35623035
geneviewrs35623035
scholarrs35623035
googlers35623035
pharmgkbrs35623035
gwascentralrs35623035
openSNPrs35623035
23andMers35623035
23andMe allrs35623035
SNP Nexus

SNPshotrs35623035
SNPdbers35623035
MSV3drs35623035
GWAS Ctlgrs35623035
Max Magnitude0
Venter snp
Source plos
Gene COL7A1
allele A
frequency
sift
HuRef 1103656089813
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.