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rs121912835

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912835(A;A)
Make rs121912835(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position48582616
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912835
ebirs121912835
HLIrs121912835
Exacrs121912835
Varsomers121912835
Maprs121912835
PheGenIrs121912835
hapmaprs121912835
1000 genomesrs121912835
hgdprs121912835
ensemblrs121912835
gopubmedrs121912835
geneviewrs121912835
scholarrs121912835
googlers121912835
pharmgkbrs121912835
gwascentralrs121912835
openSNPrs121912835
23andMers121912835
23andMe allrs121912835
SNP Nexus

SNPshotrs121912835
SNPdbers121912835
MSV3drs121912835
GWAS Ctlgrs121912835
Max Magnitude0
OMIM120120
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121912835(A;A)
Alt rs121912835(A;A)
Reference rs121912835(G;G)
Significance Pathogenic
Disease Transient bullous dermolysis of the newborn
Variation info
Gene COL7A1
CLNDBN Transient bullous dermolysis of the newborn
Reversed 1
HGVS NC_000003.11:g.48620049C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018987.28,


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