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rs121912848

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912848(G;T)
Make rs121912848(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position48575125
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912848
ebirs121912848
HLIrs121912848
Exacrs121912848
Varsomers121912848
Maprs121912848
PheGenIrs121912848
hapmaprs121912848
1000 genomesrs121912848
hgdprs121912848
ensemblrs121912848
gopubmedrs121912848
geneviewrs121912848
scholarrs121912848
googlers121912848
pharmgkbrs121912848
gwascentralrs121912848
openSNPrs121912848
23andMers121912848
23andMe allrs121912848
SNP Nexus

SNPshotrs121912848
SNPdbers121912848
MSV3drs121912848
GWAS Ctlgrs121912848
Max Magnitude0
OMIM120120
Desc
Variant0033
Relatedalso
ClinVar
Risk rs121912848(T;T)
Alt rs121912848(T;T)
Reference rs121912848(G;G)
Significance Pathogenic
Disease Epidermolysis bullosa pruriginosa
Variation info
Gene COL7A1
CLNDBN Epidermolysis bullosa pruriginosa, autosomal dominant
Reversed 1
HGVS NC_000003.11:g.48612558C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019006.27,