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rs805698

From SNPedia

Orientationplus
Stabilizedplus
Make rs805698(C;C)
Make rs805698(C;T)
Make rs805698(T;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position104057158
GeneCOL17A1
is asnp
is mentioned by
dbSNPrs805698
ebirs805698
HLIrs805698
Exacrs805698
Varsomers805698
Maprs805698
PheGenIrs805698
hapmaprs805698
1000 genomesrs805698
hgdprs805698
ensemblrs805698
gopubmedrs805698
geneviewrs805698
scholarrs805698
googlers805698
pharmgkbrs805698
gwascentralrs805698
openSNPrs805698
23andMers805698
23andMe allrs805698
SNP Nexus

SNPshotrs805698
SNPdbers805698
MSV3drs805698
GWAS Ctlgrs805698
GMAF0.1589
Max Magnitude
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene COL17A1
allele T
frequency 1
sift
HuRef 1103694043121
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-G428S
aa_change Gly428Ser
aa_change_short G428S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.845267
summary