Source: CLINVAR

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: rs1555386022
rs1555386022
TRIP11
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C0549306
Disease: Mesomelia
Mesomelia 		0.700 0