Source: CURATED

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: rs1135401744
rs1135401744
KYNU
0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		0.700 1.000 1 2017 2017
dbSNP: rs527656756
rs527656756
HAAO ; MTA3
0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		0.700 1.000 1 2017 2017
dbSNP: rs1553154130
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		0.700 0