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rs805708

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
Make rs805708(A;G)
Make rs805708(G;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position104064575
GeneCOL17A1
is asnp
is mentioned by
dbSNPrs805708
ebirs805708
HLIrs805708
Exacrs805708
Varsomers805708
Maprs805708
PheGenIrs805708
hapmaprs805708
1000 genomesrs805708
hgdprs805708
ensemblrs805708
gopubmedrs805708
geneviewrs805708
scholarrs805708
googlers805708
pharmgkbrs805708
gwascentralrs805708
openSNPrs805708
23andMers805708
23andMe allrs805708
SNP Nexus

SNPshotrs805708
SNPdbers805708
MSV3drs805708
GWAS Ctlgrs805708
GMAF0.3994
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene COL17A1
allele A
frequency 0.275
sift
HuRef 1103694043133
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-T210M
aa_change Thr210Met
aa_change_short T210M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.580405
summary