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rs121912838

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912838(A;A)
Make rs121912838(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position48575428
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912838
ebirs121912838
HLIrs121912838
Exacrs121912838
Varsomers121912838
Maprs121912838
PheGenIrs121912838
hapmaprs121912838
1000 genomesrs121912838
hgdprs121912838
ensemblrs121912838
gopubmedrs121912838
geneviewrs121912838
scholarrs121912838
googlers121912838
pharmgkbrs121912838
gwascentralrs121912838
openSNPrs121912838
23andMers121912838
23andMe allrs121912838
SNP Nexus

SNPshotrs121912838
SNPdbers121912838
MSV3drs121912838
GWAS Ctlgrs121912838
Max Magnitude0
OMIM120120
Desc
Variant0022
Relatedalso
ClinVar
Risk rs121912838(A;A)
Alt rs121912838(A;A)
Reference rs121912838(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.48612861C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018997.27,