Have questions? Visit https://www.reddit.com/r/SNPedia

rs387906604

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906604(C;T)
Make rs387906604(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position48565458
GeneCOL7A1, UCN2
is asnp
is mentioned by
dbSNPrs387906604
ebirs387906604
HLIrs387906604
Exacrs387906604
Varsomers387906604
Maprs387906604
PheGenIrs387906604
hapmaprs387906604
1000 genomesrs387906604
hgdprs387906604
ensemblrs387906604
gopubmedrs387906604
geneviewrs387906604
scholarrs387906604
googlers387906604
pharmgkbrs387906604
gwascentralrs387906604
openSNPrs387906604
23andMers387906604
23andMe allrs387906604
SNP Nexus

SNPshotrs387906604
SNPdbers387906604
MSV3drs387906604
GWAS Ctlgrs387906604
Max Magnitude0
ClinVar
Risk rs387906604(T;T)
Alt rs387906604(T;T)
Reference rs387906604(C;C)
Significance Pathogenic
Disease Epidermolysis bullosa dystrophica inversa
Variation info
Gene COL7A1 UCN2
CLNDBN Epidermolysis bullosa dystrophica inversa, autosomal recessive
Reversed 1
HGVS NC_000003.11:g.48602891G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022477.24,