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rs786204774

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204774(G;T)
Make rs786204774(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position48569724
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs786204774
ebirs786204774
HLIrs786204774
Exacrs786204774
Varsomers786204774
Maprs786204774
PheGenIrs786204774
hapmaprs786204774
1000 genomesrs786204774
hgdprs786204774
ensemblrs786204774
gopubmedrs786204774
geneviewrs786204774
scholarrs786204774
googlers786204774
pharmgkbrs786204774
gwascentralrs786204774
openSNPrs786204774
23andMers786204774
23andMe allrs786204774
SNP Nexus

SNPshotrs786204774
SNPdbers786204774
MSV3drs786204774
GWAS Ctlgrs786204774
Max Magnitude0
ClinVar
Risk rs786204774(T;T)
Alt rs786204774(T;T)
Reference rs786204774(G;G)
Significance Probable-Pathogenic
Disease Epidermolysis bullosa dystrophica
Variation info
Gene COL7A1
CLNDBN Epidermolysis bullosa dystrophica, AD, Epidermolysis bullosa dystrophica, AR
Reversed 1
HGVS NC_000003.11:g.48607157C>A
CLNSRC
CLNACC RCV000169655.1,