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: rs137852515
rs137852515
ANOS1
2 0.925 0.160 X 8536852 missense variant C/T snv 0.800 1.000 15 1993 2014
dbSNP: rs137852517
rs137852517
ANOS1
1 1.000 0.160 X 8568252 missense variant G/A snv 2.9E-04 3.7E-04 0.800 1.000 15 1993 2014
dbSNP: rs1394625082
rs1394625082
ANOS1
1 1.000 0.160 X 8597061 missense variant A/G snv 0.700 1.000 15 1993 2014
dbSNP: rs140812865
rs140812865
ANOS1
1 1.000 0.160 X 8570650 missense variant T/C snv 1.9E-04 6.1E-04 0.700 1.000 15 1993 2014
dbSNP: rs144586521
rs144586521
ANOS1
1 1.000 0.160 X 8536777 stop gained C/A;T snv 5.7E-05 0.700 1.000 15 1993 2014
dbSNP: rs1555893221
rs1555893221
ANOS1
1 1.000 0.160 X 8554039 stop gained G/A snv 0.700 1.000 6 1993 2017
dbSNP: rs606231409
rs606231409
ANOS1
3 0.925 0.160 X 8732036 start lost T/A;C snv 0.700 1.000 2 2005 2016
dbSNP: rs606231406
rs606231406
GNRHR ; UBA6-AS1
1 1.000 0.160 4 67753944 missense variant A/G snv 0.700 1.000 1 2012 2012
dbSNP: rs1057519418
rs1057519418
ANOS1
1 1.000 0.160 X 8534399 missense variant T/G snv 0.700 0
dbSNP: rs1057520209
rs1057520209
ANOS1
1 1.000 0.160 X 8731892 missense variant A/G snv 0.700 0
dbSNP: rs1057520210
rs1057520210
ANOS1
1 1.000 0.160 X 8732003 frameshift variant -/T ins 0.700 0
dbSNP: rs1170543613
rs1170543613
ANOS1
1 1.000 0.160 X 8535722 missense variant A/T snv 5.5E-06 0.700 0
dbSNP: rs137852512
rs137852512
ANOS1
1 1.000 0.160 X 8587809 stop gained C/T snv 0.700 0
dbSNP: rs137852513
rs137852513
ANOS1
1 1.000 0.160 X 8585354 stop gained G/A snv 0.700 0
dbSNP: rs137852514
rs137852514
ANOS1
1 1.000 0.160 X 8585349 stop gained C/G;T snv 0.700 0
dbSNP: rs137852516
rs137852516
ANOS1
1 1.000 0.160 X 8585339 stop gained G/A snv 0.700 0
dbSNP: rs137900287
rs137900287
ANOS1
1 1.000 0.160 X 8535674 missense variant C/A snv 2.2E-03 2.6E-03 0.700 0
dbSNP: rs1555904591
rs1555904591
ANOS1
1 1.000 0.160 X 8731928 stop gained C/A snv 0.700 0
dbSNP: rs199771303
rs199771303
ANOS1
1 1.000 0.160 X 8533023 missense variant T/C snv 2.8E-04 3.7E-04 0.700 0
dbSNP: rs387906427
rs387906427
ANOS1
1 1.000 0.160 X 8570498 splice donor variant C/A snv 0.700 0
dbSNP: rs397518425
rs397518425
ANOS1
1 1.000 0.160 X 8539662 splice donor variant A/- del 0.700 0
dbSNP: rs773138384
rs773138384
ANOS1
1 1.000 0.160 X 8699693 splice region variant C/T snv 2.8E-05 3.8E-05 0.700 0
dbSNP: rs104893837
rs104893837
GNRHR ; UBA6-AS1
6 0.807 0.160 4 67740682 missense variant C/T snv 1.8E-03 1.3E-03 0.010 1.000 1 2011 2011
dbSNP: rs145315779
rs145315779
FGFR1
1 1.000 0.160 8 38429879 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs372654433
rs372654433
FGFR1
2 0.925 0.200 8 38418339 missense variant C/T snv 4.0E-05 2.8E-05 0.010 1.000 1 2011 2011