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rs121912856

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912856(A;G)
Make rs121912856(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position48593538
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912856
ebirs121912856
HLIrs121912856
Exacrs121912856
Varsomers121912856
Maprs121912856
PheGenIrs121912856
hapmaprs121912856
1000 genomesrs121912856
hgdprs121912856
ensemblrs121912856
gopubmedrs121912856
geneviewrs121912856
scholarrs121912856
googlers121912856
pharmgkbrs121912856
gwascentralrs121912856
openSNPrs121912856
23andMers121912856
23andMe allrs121912856
SNP Nexus

SNPshotrs121912856
SNPdbers121912856
MSV3drs121912856
GWAS Ctlgrs121912856
Max Magnitude0
OMIM120120
Desc
Variant0041
Relatedalso
ClinVar
Risk rs121912856(G;G)
Alt rs121912856(G;G)
Reference rs121912856(A;A)
Significance Pathogenic
Disease Epidermolysis bullosa dystrophica inversa
Variation info
Gene COL7A1
CLNDBN Epidermolysis bullosa dystrophica inversa, autosomal recessive
Reversed 1
HGVS NC_000003.11:g.48630971T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022479.28,