Source: BEFREE

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: rs145457535
rs145457535
CCDC103 ; FAM187A
0.827 0.160 17 44902549 missense variant A/C snv 1.2E-03 1.3E-03
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		0.010 1.000 1 2018 2018
dbSNP: rs150508940
rs150508940
PIFO
1.000 0.040 1 111347753 missense variant G/A snv 3.0E-04 1.8E-04
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		0.010 1.000 1 2010 2010
dbSNP: rs773920636
rs773920636
PIFO
1.000 0.040 1 111347744 stop gained -/AGCTGTGA delins 4.0E-06; 4.0E-06 1.4E-05
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		0.010 1.000 1 2010 2010