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rs805708

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
(G;G) 0 common in clinvar
Make rs805708(A;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position104064575
GeneCOL17A1
is asnp
is mentioned by
dbSNPrs805708
dbSNP (classic)rs805708
ClinGenrs805708
ebirs805708
HLIrs805708
Exacrs805708
Gnomadrs805708
Varsomers805708
LitVarrs805708
Maprs805708
PheGenIrs805708
Biobankrs805708
1000 genomesrs805708
hgdprs805708
ensemblrs805708
geneviewrs805708
scholarrs805708
googlers805708
pharmgkbrs805708
gwascentralrs805708
openSNPrs805708
23andMers805708
23andMe allrs805708
SNPshotrs805708
SNPdbers805708
MSV3drs805708
GWAS Ctlgrs805708
GMAF0.3994
Max Magnitude0
? (A;A) (A;G) (G;G) 28




ClinVar
Risk Rs805708(A;A)
Alt Rs805708(A;A)
Reference Rs805708(G;G)
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.105824333G>A
CLNSRC
CLNACC RCV000252360.1, RCV000264886.1,