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: rs1555119834
rs1555119834
ATM ; C11orf65
0.882 0.280 11 108326116 frameshift variant -/T delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 1 1999 1999