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rs121912847

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912847(C;T)
Make rs121912847(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position48581271
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912847
ebirs121912847
HLIrs121912847
Exacrs121912847
Varsomers121912847
Maprs121912847
PheGenIrs121912847
hapmaprs121912847
1000 genomesrs121912847
hgdprs121912847
ensemblrs121912847
gopubmedrs121912847
geneviewrs121912847
scholarrs121912847
googlers121912847
pharmgkbrs121912847
gwascentralrs121912847
openSNPrs121912847
23andMers121912847
23andMe allrs121912847
SNP Nexus

SNPshotrs121912847
SNPdbers121912847
MSV3drs121912847
GWAS Ctlgrs121912847
Max Magnitude0
OMIM120120
Desc
Variant0032
Relatedalso
ClinVar
Risk rs121912847(T;T)
Alt rs121912847(T;T)
Reference rs121912847(C;C)
Significance Pathogenic
Disease Epidermolysis bullosa pruriginosa
Variation info
Gene COL7A1
CLNDBN Epidermolysis bullosa pruriginosa, autosomal recessive
Reversed 1
HGVS NC_000003.11:g.48618704G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019005.27,