GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: Pulmonary arterial hypertension ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1273330603
rs1273330603 		1.000 0.080 13 20189094 missense variant A/G snv 2.8E-05
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		Respiratory Tract Diseases; Cardiovascular Diseases 0.700 0