Have questions? Visit https://www.reddit.com/r/SNPedia

rs17116350

From SNPedia

Orientationplus
Stabilizedplus
Make rs17116350(C;C)
Make rs17116350(C;T)
Make rs17116350(T;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position104033992
GeneCOL17A1
is asnp
is mentioned by
dbSNPrs17116350
ebirs17116350
HLIrs17116350
Exacrs17116350
Varsomers17116350
Maprs17116350
PheGenIrs17116350
hapmaprs17116350
1000 genomesrs17116350
hgdprs17116350
ensemblrs17116350
gopubmedrs17116350
geneviewrs17116350
scholarrs17116350
googlers17116350
pharmgkbrs17116350
gwascentralrs17116350
openSNPrs17116350
23andMers17116350
23andMe allrs17116350
SNP Nexus

SNPshotrs17116350
SNPdbers17116350
MSV3drs17116350
GWAS Ctlgrs17116350
GMAF0.2342
Max Magnitude
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene COL17A1
allele C
frequency
sift TOLERATED
HuRef 1103694043057
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.



[PMID 16252234OA-icon.png] Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa.


[PMID 16385451OA-icon.png] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.


GET Evidence
COL17A1-D1370G
aa_change Asp1370Gly
aa_change_short D1370G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.287879
summary