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: rs121909109
rs121909109
PITX1 ; C5orf66
1.000 0.080 5 135031290 missense variant C/T snv
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.810 1.000 2 2008 2012