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

rs121912854

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912854(C;T)
Make rs121912854(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position48592915
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912854
ebirs121912854
HLIrs121912854
Exacrs121912854
Varsomers121912854
Maprs121912854
PheGenIrs121912854
hapmaprs121912854
1000 genomesrs121912854
hgdprs121912854
ensemblrs121912854
gopubmedrs121912854
geneviewrs121912854
scholarrs121912854
googlers121912854
pharmgkbrs121912854
gwascentralrs121912854
openSNPrs121912854
23andMers121912854
23andMe allrs121912854
SNP Nexus

SNPshotrs121912854
SNPdbers121912854
MSV3drs121912854
GWAS Ctlgrs121912854
Max Magnitude0
OMIM120120
Desc
Variant0040
Relatedalso
ClinVar
Risk rs121912854(T;T)
Alt rs121912854(T;T)
Reference rs121912854(C;C)
Significance Pathogenic
Disease Epidermolysis bullosa dystrophica inversa Recessive dystrophic epidermolysis bullosa
Variation info
Gene COL7A1
CLNDBN Epidermolysis bullosa dystrophica inversa, autosomal recessive Recessive dystrophic epidermolysis bullosa
Reversed 1
HGVS NC_000003.11:g.48630348G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019013.28, RCV000019014.28,


[PMID 8037207OA-icon.png] Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa.