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: rs2288377
rs2288377
IGF1 ; LOC105369944
0.925 0.080 12 102480984 intron variant A/G;T snv
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.010 < 0.001 1 2015 2015
dbSNP: rs2288377
rs2288377
IGF1 ; LOC105369944
0.925 0.080 12 102480984 intron variant A/G;T snv
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.010 1.000 1 2017 2017