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rs805722

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
(T;T) 0 common in clinvar
Make rs805722(C;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position104050642
GeneCOL17A1
is asnp
is mentioned by
dbSNPrs805722
dbSNP (classic)rs805722
ClinGenrs805722
ebirs805722
HLIrs805722
Exacrs805722
Gnomadrs805722
Varsomers805722
LitVarrs805722
Maprs805722
PheGenIrs805722
Biobankrs805722
1000 genomesrs805722
hgdprs805722
ensemblrs805722
geneviewrs805722
scholarrs805722
googlers805722
pharmgkbrs805722
gwascentralrs805722
openSNPrs805722
23andMers805722
SNPshotrs805722
SNPdbers805722
MSV3drs805722
GWAS Ctlgrs805722
GMAF0.2755
Max Magnitude0
? (C;C) (C;T) (T;T) 28




ClinVar
Risk Rs805722(C;C)
Alt Rs805722(C;C)
Reference Rs805722(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.105810400T>C
CLNSRC
CLNACC RCV000249875.1, RCV000390866.1,