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rs121912844

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912844(A;A)
Make rs121912844(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position48575419
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912844
ebirs121912844
HLIrs121912844
Exacrs121912844
Varsomers121912844
Maprs121912844
PheGenIrs121912844
hapmaprs121912844
1000 genomesrs121912844
hgdprs121912844
ensemblrs121912844
gopubmedrs121912844
geneviewrs121912844
scholarrs121912844
googlers121912844
pharmgkbrs121912844
gwascentralrs121912844
openSNPrs121912844
23andMers121912844
23andMe allrs121912844
SNP Nexus

SNPshotrs121912844
SNPdbers121912844
MSV3drs121912844
GWAS Ctlgrs121912844
Max Magnitude0
OMIM120120
Desc
Variant0028
Relatedalso
ClinVar
Risk rs121912844(A;A)
Alt rs121912844(A;A)
Reference rs121912844(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.48612852C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019001.28,


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


[PMID 10084325] Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.