Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434221
rs121434221
1 1.000 0.120 11 108329199 missense variant A/G snv 0.800 0
dbSNP: rs121434222
rs121434222
ATM
2 0.925 0.280 11 108287687 stop gained C/T snv 0.700 0
dbSNP: rs796051857
rs796051857
1 1.000 0.120 11 108329181 inframe insertion -/GAA delins 0.700 0