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rs121912772

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912772(G;G)
Make rs121912772(G;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position104041526
GeneCOL17A1
is asnp
is mentioned by
dbSNPrs121912772
ebirs121912772
HLIrs121912772
Exacrs121912772
Varsomers121912772
Maprs121912772
PheGenIrs121912772
hapmaprs121912772
1000 genomesrs121912772
hgdprs121912772
ensemblrs121912772
gopubmedrs121912772
geneviewrs121912772
scholarrs121912772
googlers121912772
pharmgkbrs121912772
gwascentralrs121912772
openSNPrs121912772
23andMers121912772
23andMe allrs121912772
SNP Nexus

SNPshotrs121912772
SNPdbers121912772
MSV3drs121912772
GWAS Ctlgrs121912772
Max Magnitude0
OMIM113811
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121912772(G;G)
Alt rs121912772(G;G)
Reference rs121912772(T;T)
Significance Pathogenic
Disease Adult junctional epidermolysis bullosa
Variation info
Gene COL17A1
CLNDBN Adult junctional epidermolysis bullosa
Reversed 1
HGVS NC_000010.10:g.105801284A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019224.28,