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

rs121912849

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912849(C;T)
Make rs121912849(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position48575236
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912849
ebirs121912849
HLIrs121912849
Exacrs121912849
Varsomers121912849
Maprs121912849
PheGenIrs121912849
hapmaprs121912849
1000 genomesrs121912849
hgdprs121912849
ensemblrs121912849
gopubmedrs121912849
geneviewrs121912849
scholarrs121912849
googlers121912849
pharmgkbrs121912849
gwascentralrs121912849
openSNPrs121912849
23andMers121912849
23andMe allrs121912849
SNP Nexus

SNPshotrs121912849
SNPdbers121912849
MSV3drs121912849
GWAS Ctlgrs121912849
Max Magnitude0
OMIM120120
Desc
Variant0034
Relatedalso
ClinVar
Risk rs121912849(T;T)
Alt rs121912849(T;T)
Reference rs121912849(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.48612669G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019007.23,