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rs121912836

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912836(A;A)
Make rs121912836(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position48575392
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912836
ebirs121912836
HLIrs121912836
Exacrs121912836
Varsomers121912836
Maprs121912836
PheGenIrs121912836
hapmaprs121912836
1000 genomesrs121912836
hgdprs121912836
ensemblrs121912836
gopubmedrs121912836
geneviewrs121912836
scholarrs121912836
googlers121912836
pharmgkbrs121912836
gwascentralrs121912836
openSNPrs121912836
23andMers121912836
23andMe allrs121912836
SNP Nexus

SNPshotrs121912836
SNPdbers121912836
MSV3drs121912836
GWAS Ctlgrs121912836
Max Magnitude0
OMIM120120
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121912836(A;A)
Alt rs121912836(A;A)
Reference rs121912836(G;G)
Significance Pathogenic
Disease Generalized dominant dystrophic epidermolysis bullosa
Variation info
Gene COL7A1
CLNDBN Generalized dominant dystrophic epidermolysis bullosa
Reversed 1
HGVS NC_000003.11:g.48612825C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018988.27,


[PMID 9892921] A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa.