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: rs1137887
rs1137887
ATM
0.925 0.280 11 108256340 splice region variant G/A snv 4.4E-05 2.8E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 12 1998 2016