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rs797044989

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044989(C;T)
Make rs797044989(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position50074452
GeneITGA3
is asnp
is mentioned by
dbSNPrs797044989
ebirs797044989
HLIrs797044989
Exacrs797044989
Varsomers797044989
Maprs797044989
PheGenIrs797044989
hapmaprs797044989
1000 genomesrs797044989
hgdprs797044989
ensemblrs797044989
gopubmedrs797044989
geneviewrs797044989
scholarrs797044989
googlers797044989
pharmgkbrs797044989
gwascentralrs797044989
openSNPrs797044989
23andMers797044989
23andMe allrs797044989
SNP Nexus

SNPshotrs797044989
SNPdbers797044989
MSV3drs797044989
GWAS Ctlgrs797044989
Max Magnitude0
ClinVar
Risk rs797044989(T;T)
Alt rs797044989(T;T)
Reference rs797044989(C;C)
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.48151816C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190470.2,