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rs540704248

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs540704248(C;G)
Make rs540704248(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position50077024
GeneITGA3
is asnp
is mentioned by
dbSNPrs540704248
ebirs540704248
HLIrs540704248
Exacrs540704248
Varsomers540704248
Maprs540704248
PheGenIrs540704248
hapmaprs540704248
1000 genomesrs540704248
hgdprs540704248
ensemblrs540704248
gopubmedrs540704248
geneviewrs540704248
scholarrs540704248
googlers540704248
pharmgkbrs540704248
gwascentralrs540704248
openSNPrs540704248
23andMers540704248
23andMe allrs540704248
SNP Nexus

SNPshotrs540704248
SNPdbers540704248
MSV3drs540704248
GWAS Ctlgrs540704248
Max Magnitude0
ClinVar
Risk rs540704248(G,T;G,T)
Alt rs540704248(G,T;G,T)
Reference rs540704248(C;C)
Significance Probable-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.48154388C>G
CLNSRC Baylor College of Medicine
CLNACC RCV000191095.1,