Source: ALL

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: rs1400419650
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05
CUI: C0549306
Disease: Mesomelia
Mesomelia 		0.700 0
dbSNP: rs1555386022
rs1555386022
TRIP11
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C0549306
Disease: Mesomelia
Mesomelia 		0.700 0
dbSNP: rs771237928
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins
CUI: C0549306
Disease: Mesomelia
Mesomelia 		0.700 0
dbSNP: rs397514461
rs397514461
SHOX
0.827 0.200 Y 640842 missense variant G/C snv
CUI: C0549306
Disease: Mesomelia
Mesomelia 		0.010 1.000 1 2011 2011