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rs121912842

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912842(A;A)
Make rs121912842(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position48575502
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912842
ebirs121912842
HLIrs121912842
Exacrs121912842
Varsomers121912842
Maprs121912842
PheGenIrs121912842
hapmaprs121912842
1000 genomesrs121912842
hgdprs121912842
ensemblrs121912842
gopubmedrs121912842
geneviewrs121912842
scholarrs121912842
googlers121912842
pharmgkbrs121912842
gwascentralrs121912842
openSNPrs121912842
23andMers121912842
23andMe allrs121912842
SNP Nexus

SNPshotrs121912842
SNPdbers121912842
MSV3drs121912842
GWAS Ctlgrs121912842
Max Magnitude0
OMIM120120
Desc
Variant0026
Relatedalso
ClinVar
Risk rs121912842(A;A)
Alt rs121912842(A;A)
Reference rs121912842(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.48612935C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018999.23,


[PMID 9856844] Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.