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rs121912846

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912846(A;A)
Make rs121912846(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position48575409
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912846
ebirs121912846
HLIrs121912846
Exacrs121912846
Varsomers121912846
Maprs121912846
PheGenIrs121912846
hapmaprs121912846
1000 genomesrs121912846
hgdprs121912846
ensemblrs121912846
gopubmedrs121912846
geneviewrs121912846
scholarrs121912846
googlers121912846
pharmgkbrs121912846
gwascentralrs121912846
openSNPrs121912846
23andMers121912846
23andMe allrs121912846
SNP Nexus

SNPshotrs121912846
SNPdbers121912846
MSV3drs121912846
GWAS Ctlgrs121912846
Max Magnitude0
OMIM120120
Desc
Variant0031
Relatedalso
ClinVar
Risk rs121912846(A;A)
Alt rs121912846(A;A)
Reference rs121912846(G;G)
Significance Pathogenic
Disease Generalized dominant dystrophic epidermolysis bullosa
Variation info
Gene COL7A1
CLNDBN Generalized dominant dystrophic epidermolysis bullosa
Reversed 1
HGVS NC_000003.11:g.48612842C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019004.23,