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rs121912769

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912769(C;T)
Make rs121912769(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position104034711
GeneCOL17A1
is asnp
is mentioned by
dbSNPrs121912769
ebirs121912769
HLIrs121912769
Exacrs121912769
Varsomers121912769
Maprs121912769
PheGenIrs121912769
hapmaprs121912769
1000 genomesrs121912769
hgdprs121912769
ensemblrs121912769
gopubmedrs121912769
geneviewrs121912769
scholarrs121912769
googlers121912769
pharmgkbrs121912769
gwascentralrs121912769
openSNPrs121912769
23andMers121912769
23andMe allrs121912769
SNP Nexus

SNPshotrs121912769
SNPdbers121912769
MSV3drs121912769
GWAS Ctlgrs121912769
Max Magnitude0
OMIM113811
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912769(T;T)
Alt rs121912769(T;T)
Reference rs121912769(C;C)
Significance Pathogenic
Disease Adult junctional epidermolysis bullosa Epidermolysis bullosa
Variation info
Gene COL17A1
CLNDBN Adult junctional epidermolysis bullosa Epidermolysis bullosa, junctional, localisata variant
Reversed 1
HGVS NC_000010.10:g.105794469G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019212.29, RCV000019213.29,