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rs121912843

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912843(A;A)
Make rs121912843(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position48575475
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912843
ebirs121912843
HLIrs121912843
Exacrs121912843
Varsomers121912843
Maprs121912843
PheGenIrs121912843
hapmaprs121912843
1000 genomesrs121912843
hgdprs121912843
ensemblrs121912843
gopubmedrs121912843
geneviewrs121912843
scholarrs121912843
googlers121912843
pharmgkbrs121912843
gwascentralrs121912843
openSNPrs121912843
23andMers121912843
23andMe allrs121912843
SNP Nexus

SNPshotrs121912843
SNPdbers121912843
MSV3drs121912843
GWAS Ctlgrs121912843
Max Magnitude0
OMIM120120
Desc
Variant0027
Relatedalso
ClinVar
Risk rs121912843(A;A)
Alt rs121912843(A;A)
Reference rs121912843(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.48612908C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019000.27,


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