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rs121912770

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912770(C;T)
Make rs121912770(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position104038409
GeneCOL17A1
is asnp
is mentioned by
dbSNPrs121912770
ebirs121912770
HLIrs121912770
Exacrs121912770
Varsomers121912770
Maprs121912770
PheGenIrs121912770
hapmaprs121912770
1000 genomesrs121912770
hgdprs121912770
ensemblrs121912770
gopubmedrs121912770
geneviewrs121912770
scholarrs121912770
googlers121912770
pharmgkbrs121912770
gwascentralrs121912770
openSNPrs121912770
23andMers121912770
23andMe allrs121912770
SNP Nexus

SNPshotrs121912770
SNPdbers121912770
MSV3drs121912770
GWAS Ctlgrs121912770
Max Magnitude0
OMIM113811
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912770(T;T)
Alt rs121912770(T;T)
Reference rs121912770(C;C)
Significance Pathogenic
Disease Adult junctional epidermolysis bullosa
Variation info
Gene COL17A1
CLNDBN Adult junctional epidermolysis bullosa
Reversed 1
HGVS NC_000010.10:g.105798167G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019216.23,