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rs17116350

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs17116350(C;C)
Make rs17116350(C;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position104033992
GeneCOL17A1
is asnp
is mentioned by
dbSNPrs17116350
dbSNP (classic)rs17116350
ClinGenrs17116350
ebirs17116350
HLIrs17116350
Exacrs17116350
Gnomadrs17116350
Varsomers17116350
LitVarrs17116350
Maprs17116350
PheGenIrs17116350
Biobankrs17116350
1000 genomesrs17116350
hgdprs17116350
ensemblrs17116350
geneviewrs17116350
scholarrs17116350
googlers17116350
pharmgkbrs17116350
gwascentralrs17116350
openSNPrs17116350
23andMers17116350
23andMe allrs17116350
SNPshotrs17116350
SNPdbers17116350
MSV3drs17116350
GWAS Ctlgrs17116350
GMAF0.2342
Max Magnitude0
? (C;C) (C;T) (T;T) 28




[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.



ClinVar
Risk rs17116350(C;C) rs17116350(G;G)
Alt rs17116350(C;C) rs17116350(G;G)
Reference Rs17116350(T;T)
Significance Non-pathogenic
Disease not specified Epidermolysis bullosa
Variation info
Gene COL17A1
CLNDBN not specified Epidermolysis bullosa, junctional
Reversed 0
HGVS NC_000010.10:g.105793750T>C
CLNSRC
CLNACC RCV000247403.1, RCV000307690.1,