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rs121912845

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation
Make rs121912845(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position48580301
GeneCOL7A1, MIR711
is asnp
is mentioned by
dbSNPrs121912845
dbSNP (old)rs121912845
ClinGenrs121912845
ebirs121912845
HLIrs121912845
Exacrs121912845
Gnomadrs121912845
Varsomers121912845
Maprs121912845
PheGenIrs121912845
Biobankrs121912845
1000 genomesrs121912845
hgdprs121912845
ensemblrs121912845
gopubmedrs121912845
geneviewrs121912845
scholarrs121912845
googlers121912845
pharmgkbrs121912845
gwascentralrs121912845
openSNPrs121912845
23andMers121912845
23andMe allrs121912845
SNP Nexus

SNPshotrs121912845
SNPdbers121912845
MSV3drs121912845
GWAS Ctlgrs121912845
Max Magnitude3

COL7A1 gene, c.5096C>T (p.Pro1699Leu)

23andMe name: i5004269

OMIM120120
Desc
Variant0029
Relatedalso
ClinVar
Risk rs121912845(T;T)
Alt rs121912845(T;T)
Reference Rs121912845(C;C)
Significance Pathogenic
Disease Epidermolysis bullosa
Variation info
Gene MIR711 COL7A1
CLNDBN Epidermolysis bullosa, pretibial, autosomal recessive
Reversed 1
HGVS NC_000003.11:g.48617734G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019002.24,