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rs760714959

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs760714959(A;A)
Make rs760714959(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position104037688
GeneCOL17A1
is asnp
is mentioned by
dbSNPrs760714959
dbSNP (classic)rs760714959
ClinGenrs760714959
ebirs760714959
HLIrs760714959
Exacrs760714959
Gnomadrs760714959
Varsomers760714959
LitVarrs760714959
Maprs760714959
PheGenIrs760714959
Biobankrs760714959
1000 genomesrs760714959
hgdprs760714959
ensemblrs760714959
geneviewrs760714959
scholarrs760714959
googlers760714959
pharmgkbrs760714959
gwascentralrs760714959
openSNPrs760714959
23andMers760714959
SNPshotrs760714959
SNPdbers760714959
MSV3drs760714959
GWAS Ctlgrs760714959
Max Magnitude0
ClinVar
Risk rs760714959(A;A)
Alt rs760714959(A;A)
Reference Rs760714959(G;G)
Significance Pathogenic
Disease Epithelial recurrent erosion dystrophy
Variation info
Gene COL17A1
CLNDBN Epithelial recurrent erosion dystrophy
Reversed 0
HGVS NC_000010.10:g.105797446G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000190897.3,