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: rs1085307845
rs1085307845
PHIP
21 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
dbSNP: rs375761361
rs375761361
ACO2 ; POLR3H
9 0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05 0.700 0
dbSNP: rs397515415
rs397515415
HDAC8
10 0.807 0.240 X 72495216 stop gained G/A;T snv 0.700 0
dbSNP: rs778139192
rs778139192
TICRR ; KIF7
14 0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05 0.700 0
dbSNP: rs864309499
rs864309499
ACO2 ; POLR3H
9 0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs121912911
rs121912911
COL1A2
2 0.925 0.200 7 94426442 missense variant G/C snv 0.010 1.000 1 1996 1996