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rs121912833

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912833(C;C)
Make rs121912833(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position48584742
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912833
ebirs121912833
HLIrs121912833
Exacrs121912833
Varsomers121912833
Maprs121912833
PheGenIrs121912833
hapmaprs121912833
1000 genomesrs121912833
hgdprs121912833
ensemblrs121912833
gopubmedrs121912833
geneviewrs121912833
scholarrs121912833
googlers121912833
pharmgkbrs121912833
gwascentralrs121912833
openSNPrs121912833
23andMers121912833
23andMe allrs121912833
SNP Nexus

SNPshotrs121912833
SNPdbers121912833
MSV3drs121912833
GWAS Ctlgrs121912833
Max Magnitude0
OMIM120120
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121912833(C,T;C,T)
Alt rs121912833(C,T;C,T)
Reference rs121912833(G;G)
Significance Pathogenic
Disease Epidermolysis bullosa dystrophica
Variation info
Gene COL7A1
CLNDBN Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant
Reversed 1
HGVS NC_000003.11:g.48622175C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018982.28,


[PMID 9804332] Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.