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

rs121912841

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912841(C;C)
Make rs121912841(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position48578497
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912841
ebirs121912841
HLIrs121912841
Exacrs121912841
Varsomers121912841
Maprs121912841
PheGenIrs121912841
hapmaprs121912841
1000 genomesrs121912841
hgdprs121912841
ensemblrs121912841
gopubmedrs121912841
geneviewrs121912841
scholarrs121912841
googlers121912841
pharmgkbrs121912841
gwascentralrs121912841
openSNPrs121912841
23andMers121912841
23andMe allrs121912841
SNP Nexus

SNPshotrs121912841
SNPdbers121912841
MSV3drs121912841
GWAS Ctlgrs121912841
Max Magnitude0
OMIM120120
Desc
Variant0025
Relatedalso
ClinVar
Risk rs121912841(A,C;A,C)
Alt rs121912841(A,C;A,C)
Reference rs121912841(G;G)
Significance Pathogenic
Disease Dominant dystrophic epidermolysis bullosa with absence of skin Recessive dystrophic epidermolysis bullosa
Variation info
Gene MIR711 COL7A1
CLNDBN Dominant dystrophic epidermolysis bullosa with absence of skin Recessive dystrophic epidermolysis bullosa
Reversed 1
HGVS NC_000003.11:g.48615930C>T
CLNSRC COL7A1 database OMIM Allelic Variant
CLNACC RCV000144373.1, RCV000225690.1,


[PMID 11843659] Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa.