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rs121912831

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912831(G;T)
Make rs121912831(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position48568098
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912831
ebirs121912831
HLIrs121912831
Exacrs121912831
Varsomers121912831
Maprs121912831
PheGenIrs121912831
hapmaprs121912831
1000 genomesrs121912831
hgdprs121912831
ensemblrs121912831
gopubmedrs121912831
geneviewrs121912831
scholarrs121912831
googlers121912831
pharmgkbrs121912831
gwascentralrs121912831
openSNPrs121912831
23andMers121912831
23andMe allrs121912831
SNP Nexus

SNPshotrs121912831
SNPdbers121912831
MSV3drs121912831
GWAS Ctlgrs121912831
Max Magnitude0
OMIM120120
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121912831(T;T)
Alt rs121912831(T;T)
Reference rs121912831(G;G)
Significance Pathogenic
Disease Pretibial epidermolysis bullosa
Variation info
Gene COL7A1
CLNDBN Pretibial epidermolysis bullosa
Reversed 1
HGVS NC_000003.11:g.48605531C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018975.27,


[PMID 8541842] Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.