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: rs876659365
rs876659365
ATM ; C11orf65
1.000 0.200 11 108330314 missense variant T/G snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 20 1995 2017