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

rs121912852

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912852(C;T)
Make rs121912852(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position48570304
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912852
ebirs121912852
HLIrs121912852
Exacrs121912852
Varsomers121912852
Maprs121912852
PheGenIrs121912852
hapmaprs121912852
1000 genomesrs121912852
hgdprs121912852
ensemblrs121912852
gopubmedrs121912852
geneviewrs121912852
scholarrs121912852
googlers121912852
pharmgkbrs121912852
gwascentralrs121912852
openSNPrs121912852
23andMers121912852
23andMe allrs121912852
SNP Nexus

SNPshotrs121912852
SNPdbers121912852
MSV3drs121912852
GWAS Ctlgrs121912852
Max Magnitude0
OMIM120120
Desc
Variant0037
Relatedalso
ClinVar
Risk rs121912852(T;T)
Alt rs121912852(T;T)
Reference rs121912852(C;C)
Significance Pathogenic
Disease Recessive dystrophic epidermolysis bullosa
Variation info
Gene COL7A1
CLNDBN Recessive dystrophic epidermolysis bullosa
Reversed 1
HGVS NC_000003.11:g.48607737G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019010.28,