Source: UNIPROT

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: rs587779872
rs587779872
ATM ; C11orf65
1.000 0.200 11 108345818 missense variant C/T snv 3.2E-05 1.4E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 20 1995 2017