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rs805698

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs805698(C;T)
Make rs805698(T;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position104057158
GeneCOL17A1
is asnp
is mentioned by
dbSNPrs805698
dbSNP (classic)rs805698
ClinGenrs805698
ebirs805698
HLIrs805698
Exacrs805698
Gnomadrs805698
Varsomers805698
LitVarrs805698
Maprs805698
PheGenIrs805698
Biobankrs805698
1000 genomesrs805698
hgdprs805698
ensemblrs805698
geneviewrs805698
scholarrs805698
googlers805698
pharmgkbrs805698
gwascentralrs805698
openSNPrs805698
23andMers805698
23andMe allrs805698
SNPshotrs805698
SNPdbers805698
MSV3drs805698
GWAS Ctlgrs805698
GMAF0.1589
Max Magnitude0
? (C;C) (C;T) (T;T) 28





ClinVar
Risk rs805698(T;T)
Alt rs805698(T;T)
Reference Rs805698(C;C)
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.105816916C>T
CLNSRC
CLNACC RCV000244902.1, RCV000344715.1,