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: rs1057516049
rs1057516049
KAT6A
7 0.851 0.040 8 41933963 frameshift variant CACT/- delins 0.700 0
dbSNP: rs1555789019
rs1555789019
TCF4
5 0.882 0.320 18 55269829 splice donor variant ACCCAT/GGGAC delins 0.700 0
dbSNP: rs397515415
rs397515415
HDAC8
10 0.807 0.240 X 72495216 stop gained G/A;T snv 0.700 0