SHOX2, short stature homeobox 2, 6474

N. diseases: 38; N. variants: 2
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: rs1291725984
rs1291725984 		1.000 0.080 3 158105088 missense variant G/A snv 6.6E-06 7.7E-06
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs768138092
rs768138092 		0.925 0.080 3 158105927 missense variant G/C;T snv 4.3E-06; 4.3E-06
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
Sinus Node Dysfunction (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs768138092
rs768138092 		0.925 0.080 3 158105927 missense variant G/C;T snv 4.3E-06; 4.3E-06
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2019 2019