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rs121912829

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912829(A;A)
Make rs121912829(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position48575401
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912829
ebirs121912829
HLIrs121912829
Exacrs121912829
Varsomers121912829
Maprs121912829
PheGenIrs121912829
hapmaprs121912829
1000 genomesrs121912829
hgdprs121912829
ensemblrs121912829
gopubmedrs121912829
geneviewrs121912829
scholarrs121912829
googlers121912829
pharmgkbrs121912829
gwascentralrs121912829
openSNPrs121912829
23andMers121912829
23andMe allrs121912829
SNP Nexus

SNPshotrs121912829
SNPdbers121912829
MSV3drs121912829
GWAS Ctlgrs121912829
Max Magnitude0
OMIM120120
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912829(A;A)
Alt rs121912829(A;A)
Reference rs121912829(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.48612834C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018970.27,


[PMID 1680286OA-icon.png] Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa.


[PMID 8170945OA-icon.png] Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen.