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

rs121912853

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912853(A;A)
Make rs121912853(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position48566719
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912853
ebirs121912853
HLIrs121912853
Exacrs121912853
Varsomers121912853
Maprs121912853
PheGenIrs121912853
hapmaprs121912853
1000 genomesrs121912853
hgdprs121912853
ensemblrs121912853
gopubmedrs121912853
geneviewrs121912853
scholarrs121912853
googlers121912853
pharmgkbrs121912853
gwascentralrs121912853
openSNPrs121912853
23andMers121912853
23andMe allrs121912853
SNP Nexus

SNPshotrs121912853
SNPdbers121912853
MSV3drs121912853
GWAS Ctlgrs121912853
GMAF0.0004591
Max Magnitude0
OMIM120120
Desc
Variant0038
Relatedalso
ClinVar
Risk rs121912853(A,T;A,T)
Alt rs121912853(A,T;A,T)
Reference rs121912853(G;G)
Significance Pathogenic
Disease Recessive dystrophic epidermolysis bullosa
Variation info
Gene COL7A1
CLNDBN Recessive dystrophic epidermolysis bullosa
Reversed 1
HGVS NC_000003.11:g.48604152C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019011.24,