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rs797045142

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045142(C;T)
Make rs797045142(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position104039613
GeneCOL17A1
is asnp
is mentioned by
dbSNPrs797045142
dbSNP (old)rs797045142
ClinGenrs797045142
ebirs797045142
HLIrs797045142
Exacrs797045142
Gnomadrs797045142
Varsomers797045142
Maprs797045142
PheGenIrs797045142
Biobankrs797045142
1000 genomesrs797045142
hgdprs797045142
ensemblrs797045142
gopubmedrs797045142
geneviewrs797045142
scholarrs797045142
googlers797045142
pharmgkbrs797045142
gwascentralrs797045142
openSNPrs797045142
23andMers797045142
23andMe allrs797045142
SNP Nexus

SNPshotrs797045142
SNPdbers797045142
MSV3drs797045142
GWAS Ctlgrs797045142
Max Magnitude0
ClinVar
Risk rs797045142(T;T)
Alt rs797045142(T;T)
Reference Rs797045142(C;C)
Significance Pathogenic
Disease Epithelial recurrent erosion dystrophy
Variation info
Gene COL17A1
CLNDBN Epithelial recurrent erosion dystrophy
Reversed 1
HGVS NC_000010.10:g.105799371G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000190896.3,