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rs797045084

From SNPedia

Orientationminus
Geno Mag Summary
(TTTCAGAGGGGT;TTTCAGAGGGGT) 0 common in clinvar
Make rs797045084(-;-)
Make rs797045084(-;TTTCAGAGGGGT)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position104043576
GeneCOL17A1
is asnp
is mentioned by
dbSNPrs797045084
ebirs797045084
HLIrs797045084
Exacrs797045084
Varsomers797045084
Maprs797045084
PheGenIrs797045084
hapmaprs797045084
1000 genomesrs797045084
hgdprs797045084
ensemblrs797045084
gopubmedrs797045084
geneviewrs797045084
scholarrs797045084
googlers797045084
pharmgkbrs797045084
gwascentralrs797045084
openSNPrs797045084
23andMers797045084
23andMe allrs797045084
SNP Nexus

SNPshotrs797045084
SNPdbers797045084
MSV3drs797045084
GWAS Ctlgrs797045084
Max Magnitude0
ClinVar
Risk rs797045084(;)
Alt rs797045084(;)
Reference rs797045084(TTTCAGAGGGGT;TTTCAGAGGGGT)
Significance Probable-Pathogenic
Disease Adult junctional epidermolysis bullosa
Variation info
Gene COL17A1
CLNDBN Adult junctional epidermolysis bullosa
Reversed 1
HGVS NC_000010.10:g.105803334_105803345delACCCCTCTGAAA
CLNSRC
CLNACC RCV000190573.1,