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

rs121912828

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912828(A;A)
Make rs121912828(A;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position48566281
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912828
ebirs121912828
HLIrs121912828
Exacrs121912828
Varsomers121912828
Maprs121912828
PheGenIrs121912828
hapmaprs121912828
1000 genomesrs121912828
hgdprs121912828
ensemblrs121912828
gopubmedrs121912828
geneviewrs121912828
scholarrs121912828
googlers121912828
pharmgkbrs121912828
gwascentralrs121912828
openSNPrs121912828
23andMers121912828
23andMe allrs121912828
SNP Nexus

SNPshotrs121912828
SNPdbers121912828
MSV3drs121912828
GWAS Ctlgrs121912828
Max Magnitude0
OMIM120120
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912828(A;A)
Alt rs121912828(A;A)
Reference rs121912828(T;T)
Significance Pathogenic
Disease Recessive dystrophic epidermolysis bullosa
Variation info
Gene COL7A1
CLNDBN Recessive dystrophic epidermolysis bullosa
Reversed 1
HGVS NC_000003.11:g.48603714A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018969.27,