Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267606914
rs267606914
NKX2-6 ; LOC107986930
0.925 0.080 8 23702906 missense variant A/G snv
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 1.000 4 2005 2015
dbSNP: rs121434423
rs121434423
GDF1 ; CERS1
0.925 0.080 19 18868916 missense variant C/T snv 7.2E-06
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 1.000 1 2007 2007
dbSNP: rs121908601
rs121908601
ZFPM2
0.851 0.080 8 105419192 missense variant A/C;G snv 4.0E-06; 2.7E-03
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 1.000 1 2011 2011
dbSNP: rs387906813
rs387906813
GATA6
0.882 0.080 18 22181546 missense variant A/C;G snv
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 1.000 1 2009 2009
dbSNP: rs202204708
rs202204708
ZFPM2 ; ZFPM2-AS1
0.882 0.080 8 105788864 missense variant A/G snv 4.5E-04 4.7E-04
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 0
dbSNP: rs28936670
rs28936670
NKX2-5
0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 0
dbSNP: rs28939675
rs28939675
TBX1
0.882 0.200 22 19763273 missense variant T/A snv
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 0