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: rs122454129
rs122454129
RPS6KA3
1 1.000 0.080 X 20175244 missense variant G/A snv 0.800 1.000 2 1999 2006
dbSNP: rs387906703
rs387906703
RPS6KA3
1 1.000 0.080 X 20195128 missense variant T/A snv 0.800 1.000 2 1999 2006
dbSNP: rs144984628
rs144984628
RPS6KA3
1 1.000 0.080 X 20155453 missense variant C/T snv 1.5E-03 1.3E-03 0.700 0
dbSNP: rs1555924331
rs1555924331
RPS6KA3
2 0.925 0.080 X 20155436 missense variant G/A snv 0.700 0
dbSNP: rs1569190602
rs1569190602
RPS6KA3
2 0.925 0.080 X 20161758 frameshift variant G/- del 0.700 0
dbSNP: rs1569216119
rs1569216119
RPS6KA3
2 0.925 0.080 X 20187953 missense variant C/T snv 0.700 0
dbSNP: rs398122813
rs398122813
RPS6KA3
1 1.000 0.080 X 20194215 inframe deletion TCC/- delins 0.700 0
dbSNP: rs797045920
rs797045920
RPS6KA3
1 1.000 0.080 X 20172792 frameshift variant AACA/- delins 0.700 0
dbSNP: rs869320705
rs869320705
RPS6KA3
2 0.925 0.080 X 20177017 stop gained G/A snv 0.700 0