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rs121912773

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912773(A;A)
Make rs121912773(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position104053072
GeneCOL17A1
is asnp
is mentioned by
dbSNPrs121912773
ebirs121912773
HLIrs121912773
Exacrs121912773
Varsomers121912773
Maprs121912773
PheGenIrs121912773
hapmaprs121912773
1000 genomesrs121912773
hgdprs121912773
ensemblrs121912773
gopubmedrs121912773
geneviewrs121912773
scholarrs121912773
googlers121912773
pharmgkbrs121912773
gwascentralrs121912773
openSNPrs121912773
23andMers121912773
23andMe allrs121912773
SNP Nexus

SNPshotrs121912773
SNPdbers121912773
MSV3drs121912773
GWAS Ctlgrs121912773
Max Magnitude0
OMIM113811
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121912773(A;A)
Alt rs121912773(A;A)
Reference rs121912773(G;G)
Significance Pathogenic
Disease Adult junctional epidermolysis bullosa
Variation info
Gene COL17A1
CLNDBN Adult junctional epidermolysis bullosa
Reversed 1
HGVS NC_000010.10:g.105812830C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019225.28,