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: rs121918361
rs121918361
ARHGEF9
1 1.000 0.120 X 63724557 missense variant C/G snv 0.810 1.000 3 2004 2015
dbSNP: rs1135401795
rs1135401795
ARHGEF9
1 1.000 0.120 X 63674097 stop gained G/A snv 0.700 1.000 4 2008 2018
dbSNP: rs1569476483
rs1569476483
ARHGEF9
1 1.000 0.120 X 63697124 splice donor variant C/T snv 0.700 1.000 3 2015 2017
dbSNP: rs1556358991
rs1556358991
ARHGEF9
1 1.000 0.120 X 63674063 stop gained C/T snv 0.700 0
dbSNP: rs1556389083
rs1556389083
ARHGEF9
1 1.000 0.120 X 63697145 missense variant C/G snv 0.700 0
dbSNP: rs1556401714
rs1556401714
ARHGEF9
1 1.000 0.120 X 63706328 missense variant C/T snv 0.700 0
dbSNP: rs1556401730
rs1556401730
ARHGEF9
1 1.000 0.120 X 63706329 missense variant G/A snv 0.700 0
dbSNP: rs1569458475
rs1569458475
ARHGEF9
1 1.000 0.120 X 63674061 stop gained G/A snv 0.700 0
dbSNP: rs397514460
rs397514460
ARHGEF9
1 1.000 0.120 X 63785142 stop gained G/A;T snv 0.700 0
dbSNP: rs1311020836
rs1311020836
MTG1
1 1.000 0.120 10 133394275 missense variant A/G snv 7.0E-06 0.010 1.000 1 2004 2004