rs1273330603, GJB2

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
34 1.000 0.080 13 20189094 missense variant A/G snv 2.8E-05 0.700 0
Pulmonary arterial hypertension
CUI: C2973725
Disease: Pulmonary arterial hypertension
70 1.000 0.080 13 20189094 missense variant A/G snv 2.8E-05 0.700 0
Respiratory distress
CUI: C0476273
Disease: Respiratory distress
16 1.000 0.080 13 20189094 missense variant A/G snv 2.8E-05 0.700 0