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rs121912851

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912851(A;A)
Make rs121912851(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position48567736
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912851
ebirs121912851
HLIrs121912851
Exacrs121912851
Varsomers121912851
Maprs121912851
PheGenIrs121912851
hapmaprs121912851
1000 genomesrs121912851
hgdprs121912851
ensemblrs121912851
gopubmedrs121912851
geneviewrs121912851
scholarrs121912851
googlers121912851
pharmgkbrs121912851
gwascentralrs121912851
openSNPrs121912851
23andMers121912851
23andMe allrs121912851
SNP Nexus

SNPshotrs121912851
SNPdbers121912851
MSV3drs121912851
GWAS Ctlgrs121912851
Max Magnitude0
OMIM120120
Desc
Variant0036
Relatedalso
ClinVar
Risk rs121912851(A;A)
Alt rs121912851(A;A)
Reference rs121912851(G;G)
Significance Pathogenic
Disease Recessive dystrophic epidermolysis bullosa
Variation info
Gene COL7A1
CLNDBN Recessive dystrophic epidermolysis bullosa
Reversed 1
HGVS NC_000003.11:g.48605169C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019009.27,