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rs121912771

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912771(A;A)
Make rs121912771(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position104034193
GeneCOL17A1
is asnp
is mentioned by
dbSNPrs121912771
ebirs121912771
HLIrs121912771
Exacrs121912771
Varsomers121912771
Maprs121912771
PheGenIrs121912771
hapmaprs121912771
1000 genomesrs121912771
hgdprs121912771
ensemblrs121912771
gopubmedrs121912771
geneviewrs121912771
scholarrs121912771
googlers121912771
pharmgkbrs121912771
gwascentralrs121912771
openSNPrs121912771
23andMers121912771
23andMe allrs121912771
SNP Nexus

SNPshotrs121912771
SNPdbers121912771
MSV3drs121912771
GWAS Ctlgrs121912771
GMAF0.0004591
Max Magnitude0
OMIM113811
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121912771(A;A)
Alt rs121912771(A;A)
Reference rs121912771(G;G)
Significance Pathogenic
Disease Epidermolysis bullosa
Variation info
Gene COL17A1
CLNDBN Epidermolysis bullosa, junctional, localisata variant
Reversed 1
HGVS NC_000010.10:g.105793951C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019218.28,