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rs797045048

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045048(A;A)
Make rs797045048(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position50077122
GeneITGA3
is asnp
is mentioned by
dbSNPrs797045048
dbSNP (classic)rs797045048
ClinGenrs797045048
ebirs797045048
HLIrs797045048
Exacrs797045048
Gnomadrs797045048
Varsomers797045048
LitVarrs797045048
Maprs797045048
PheGenIrs797045048
Biobankrs797045048
1000 genomesrs797045048
hgdprs797045048
ensemblrs797045048
geneviewrs797045048
scholarrs797045048
googlers797045048
pharmgkbrs797045048
gwascentralrs797045048
openSNPrs797045048
23andMers797045048
SNPshotrs797045048
SNPdbers797045048
MSV3drs797045048
GWAS Ctlgrs797045048
Max Magnitude0
ClinVar
Risk rs797045048(A;A)
Alt rs797045048(A;A)
Reference Rs797045048(G;G)
Significance Pathogenic
Disease Interstitial lung disease
Variation info
Gene ITGA3
CLNDBN Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
Reversed 0
HGVS NC_000017.10:g.48154486G>A
CLNSRC Baylor College of Medicine
CLNACC RCV000191096.1,