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: rs886037751
rs886037751 		0.925 0.080 18 50261065 missense variant T/C snv 1.3E-05 1.4E-05
CUI: C3553676
Disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
HETEROTAXY, VISCERAL, 6, AUTOSOMAL 		0.700 1.000 2 2012 2016
dbSNP: rs1555672928
rs1555672928 		1.000 0.080 18 50261063 splice acceptor variant TTGCTGGTCTAGCTTTTCAGCCACAAAATCCTGCCTCTCTTTTTCATTCTTCTCTTTTAGTAATTTAGTTTTCTCTCTCATCCTATCTTTTTTCTCCTCAATGGTTTCTTTCTTCAATTGCATTTCTGTAAAATACTCATTTTCTTCTAATGCTAAAAGCTCACGTAGCCTGAA/- delins
CUI: C0011813
Disease: Dextrocardia
Dextrocardia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs886037751
rs886037751 		0.925 0.080 18 50261065 missense variant T/C snv 1.3E-05 1.4E-05
CUI: C0011813
Disease: Dextrocardia
Dextrocardia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs375801610
rs375801610 		1.000 18 50262168 stop gained G/A;C snv 2.4E-05; 4.0E-06
CUI: C3553676
Disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
HETEROTAXY, VISCERAL, 6, AUTOSOMAL 		0.700 0