Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912774

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912774(C;T)
Make rs121912774(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position104072062
GeneCOL17A1
is asnp
is mentioned by
dbSNPrs121912774
ebirs121912774
HLIrs121912774
Exacrs121912774
Varsomers121912774
Maprs121912774
PheGenIrs121912774
hapmaprs121912774
1000 genomesrs121912774
hgdprs121912774
ensemblrs121912774
gopubmedrs121912774
geneviewrs121912774
scholarrs121912774
googlers121912774
pharmgkbrs121912774
gwascentralrs121912774
openSNPrs121912774
23andMers121912774
23andMe allrs121912774
SNP Nexus

SNPshotrs121912774
SNPdbers121912774
MSV3drs121912774
GWAS Ctlgrs121912774
Max Magnitude0
OMIM113811
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121912774(T;T)
Alt rs121912774(T;T)
Reference rs121912774(C;C)
Significance Pathogenic
Disease Adult junctional epidermolysis bullosa
Variation info
Gene COL17A1
CLNDBN Adult junctional epidermolysis bullosa
Reversed 1
HGVS NC_000010.10:g.105831820G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019226.29,