Source: ALL
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: rs1481733213
rs1481733213
ATR
5 0.851 0.240 3 142568059 splice region variant T/C snv 0.700 0
dbSNP: rs1553760567
rs1553760567
ATR
1 1.000 0.200 3 142505138 splice donor variant C/T snv 0.700 0
dbSNP: rs1553761113
rs1553761113
ATR
5 0.851 0.240 3 142507967 missense variant C/A snv 0.700 0
dbSNP: rs387907327
rs387907327
ATR
1 1.000 0.200 3 142497116 missense variant C/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs587776690
rs587776690
ATR
4 0.882 0.280 3 142556439 synonymous variant T/C snv 0.700 0
dbSNP: rs587777851
rs587777851
ATR
1 1.000 0.200 3 142541008 missense variant C/A snv 0.700 0
dbSNP: rs587777852
rs587777852
ATR
1 1.000 0.200 3 142465860 non coding transcript exon variant G/C snv 9.8E-05 0.700 0
dbSNP: rs797045403
rs797045403
ATR
1 1.000 0.200 3 142513500 splice donor variant C/A snv 0.700 0