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rs121912837

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912837(A;A)
Make rs121912837(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position48573047
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912837
ebirs121912837
HLIrs121912837
Exacrs121912837
Varsomers121912837
Maprs121912837
PheGenIrs121912837
hapmaprs121912837
1000 genomesrs121912837
hgdprs121912837
ensemblrs121912837
gopubmedrs121912837
geneviewrs121912837
scholarrs121912837
googlers121912837
pharmgkbrs121912837
gwascentralrs121912837
openSNPrs121912837
23andMers121912837
23andMe allrs121912837
SNP Nexus

SNPshotrs121912837
SNPdbers121912837
MSV3drs121912837
GWAS Ctlgrs121912837
Max Magnitude0
OMIM120120
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121912837(A;A)
Alt rs121912837(A;A)
Reference rs121912837(G;G)
Significance Pathogenic
Disease Inborn genetic diseases Epidermolysis bullosa pruriginosa
Variation info
Gene COL7A1
CLNDBN Inborn genetic diseases Epidermolysis bullosa pruriginosa, autosomal dominant
Reversed 1
HGVS NC_000003.11:g.48610480C>G; NC_000003.11:g.48610480C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190693.1, RCV000018989.28,