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rs805722

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
Make rs805722(C;T)
Make rs805722(T;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position104050642
GeneCOL17A1
is asnp
is mentioned by
dbSNPrs805722
ebirs805722
HLIrs805722
Exacrs805722
Varsomers805722
Maprs805722
PheGenIrs805722
hapmaprs805722
1000 genomesrs805722
hgdprs805722
ensemblrs805722
gopubmedrs805722
geneviewrs805722
scholarrs805722
googlers805722
pharmgkbrs805722
gwascentralrs805722
openSNPrs805722
23andMers805722
23andMe allrs805722
SNP Nexus

SNPshotrs805722
SNPdbers805722
MSV3drs805722
GWAS Ctlgrs805722
GMAF0.2755
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene COL17A1
allele C
frequency 0.183
sift TOLERATED
HuRef 1103694043091
Disease Association Defects in COL17A1 are a cause of generalized atrophic benign epidermolysis bullosa (GABEB) (MIM:226650). GABEB is a nonlethal form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities.



GET Evidence
COL17A1-M703V
aa_change Met703Val
aa_change_short M703V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.71491
summary