Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1278146027
rs1278146027 		12 122765333 missense variant A/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1297485103
rs1297485103 		12 122762190 missense variant G/A snv
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		Mental Disorders 0.010 1.000 1 2016 2016