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rs387906605

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906605(A;A)
Make rs387906605(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position48582512
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs387906605
ebirs387906605
HLIrs387906605
Exacrs387906605
Varsomers387906605
Maprs387906605
PheGenIrs387906605
hapmaprs387906605
1000 genomesrs387906605
hgdprs387906605
ensemblrs387906605
gopubmedrs387906605
geneviewrs387906605
scholarrs387906605
googlers387906605
pharmgkbrs387906605
gwascentralrs387906605
openSNPrs387906605
23andMers387906605
23andMe allrs387906605
SNP Nexus

SNPshotrs387906605
SNPdbers387906605
MSV3drs387906605
GWAS Ctlgrs387906605
Max Magnitude0
ClinVar
Risk rs387906605(A;A)
Alt rs387906605(A;A)
Reference rs387906605(G;G)
Significance Pathogenic
Disease Transient bullous dermolysis of the newborn
Variation info
Gene COL7A1
CLNDBN Transient bullous dermolysis of the newborn
Reversed 1
HGVS NC_000003.11:g.48619945C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022478.23,