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rs121912850

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912850(A;A)
Make rs121912850(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position48575116
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912850
ebirs121912850
HLIrs121912850
Exacrs121912850
Varsomers121912850
Maprs121912850
PheGenIrs121912850
hapmaprs121912850
1000 genomesrs121912850
hgdprs121912850
ensemblrs121912850
gopubmedrs121912850
geneviewrs121912850
scholarrs121912850
googlers121912850
pharmgkbrs121912850
gwascentralrs121912850
openSNPrs121912850
23andMers121912850
23andMe allrs121912850
SNP Nexus

SNPshotrs121912850
SNPdbers121912850
MSV3drs121912850
GWAS Ctlgrs121912850
Max Magnitude0
OMIM120120
Desc
Variant0035
Relatedalso
ClinVar
Risk rs121912850(A;A)
Alt rs121912850(A;A)
Reference rs121912850(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.48612549C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019008.23,