rs387906819, GATA6

N. diseases: 6
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.
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
10 0.882 0.120 18 22181517 missense variant G/A snv 0.800 1.000 1 2011 2011
Dysplastic pulmonary valve
CUI: C1866206
Disease: Dysplastic pulmonary valve
3 0.882 0.120 18 22181517 missense variant G/A snv 0.700 0
Hemangioma
CUI: C0018916
Disease: Hemangioma
24 0.882 0.120 18 22181517 missense variant G/A snv 0.700 0
Hydronephrosis
CUI: C0020295
Disease: Hydronephrosis
18 0.882 0.120 18 22181517 missense variant G/A snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.882 0.120 18 22181517 missense variant G/A snv 0.700 0
Wide spaced nipples
CUI: C1827524
Disease: Wide spaced nipples
19 0.882 0.120 18 22181517 missense variant G/A snv 0.700 0