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rs121912834

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912834(A;A)
Make rs121912834(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position48572941
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912834
ebirs121912834
HLIrs121912834
Exacrs121912834
Varsomers121912834
Maprs121912834
PheGenIrs121912834
hapmaprs121912834
1000 genomesrs121912834
hgdprs121912834
ensemblrs121912834
gopubmedrs121912834
geneviewrs121912834
scholarrs121912834
googlers121912834
pharmgkbrs121912834
gwascentralrs121912834
openSNPrs121912834
23andMers121912834
23andMe allrs121912834
SNP Nexus

SNPshotrs121912834
SNPdbers121912834
MSV3drs121912834
GWAS Ctlgrs121912834
Max Magnitude0
OMIM120120
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121912834(A,C;A,C)
Alt rs121912834(A,C;A,C)
Reference rs121912834(G;G)
Significance Pathogenic
Disease Transient bullous dermolysis of the newborn Nail disorder Epidermolysis bullosa pruriginosa
Variation info
Gene COL7A1
CLNDBN Transient bullous dermolysis of the newborn Nail disorder, nonsyndromic congenital, 8 Epidermolysis bullosa pruriginosa, autosomal dominant
Reversed 1
HGVS NC_000003.11:g.48610374C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018984.27, RCV000018985.23, RCV000018986.23,


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


[PMID 17434045] Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa.