GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES ×
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: rs387906813
rs387906813 		0.882 0.080 18 22181546 missense variant A/C;G snv
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.800 1.000 1 2011 2011
dbSNP: rs387906817
rs387906817 		1.000 18 22181504 missense variant A/G snv
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.800 1.000 1 2011 2011
dbSNP: rs387906818
rs387906818 		0.882 0.120 18 22181516 missense variant C/T snv
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.800 1.000 1 2011 2011
dbSNP: rs387906819
rs387906819 		0.882 0.120 18 22181517 missense variant G/A snv
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.800 1.000 1 2011 2011
dbSNP: rs387906820
rs387906820 		1.000 18 22181549 missense variant G/A snv
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.800 1.000 1 2011 2011
dbSNP: rs1555628863
rs1555628863 		0.925 0.080 18 22172215 frameshift variant G/- delins
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.700 0
dbSNP: rs587776872
rs587776872 		1.000 18 22182775 frameshift variant TGAAAAAA/- delins
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.700 0
dbSNP: rs587776936
rs587776936 		1.000 18 22182831 frameshift variant AA/- delins
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.700 0
dbSNP: rs587777710
rs587777710 		0.807 0.160 18 22171856 stop gained G/T snv
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.700 0
dbSNP: rs797045593
rs797045593 		1.000 18 22172231 stop gained C/T snv
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.700 0