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: rs369494682
rs369494682
DIAPH1
1 1.000 5 141582369 stop gained G/A;T snv 4.4E-05 5.6E-05 0.700 0
dbSNP: rs730882242
rs730882242
DIAPH1
7 0.807 0.280 5 141573518 stop gained G/A snv 0.700 0
dbSNP: rs863225242
rs863225242
DIAPH1
1 1.000 5 141529181 frameshift variant A/- delins 0.700 0
dbSNP: rs863225243
rs863225243
DIAPH1
1 1.000 5 141528456 stop gained G/A snv 0.700 0