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rs121912832

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912832(A;A)
Make rs121912832(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position48575512
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912832
ebirs121912832
HLIrs121912832
Exacrs121912832
Varsomers121912832
Maprs121912832
PheGenIrs121912832
hapmaprs121912832
1000 genomesrs121912832
hgdprs121912832
ensemblrs121912832
gopubmedrs121912832
geneviewrs121912832
scholarrs121912832
googlers121912832
pharmgkbrs121912832
gwascentralrs121912832
openSNPrs121912832
23andMers121912832
23andMe allrs121912832
SNP Nexus

SNPshotrs121912832
SNPdbers121912832
MSV3drs121912832
GWAS Ctlgrs121912832
Max Magnitude0
OMIM120120
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121912832(A;A)
Alt rs121912832(A;A)
Reference rs121912832(G;G)
Significance Pathogenic
Disease Dominant dystrophic epidermolysis bullosa with absence of skin
Variation info
Gene COL7A1
CLNDBN Dominant dystrophic epidermolysis bullosa with absence of skin
Reversed 1
HGVS NC_000003.11:g.48612945C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018976.27,