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: rs28936702
rs28936702
HESX1
1 1.000 0.080 3 57198277 missense variant G/A snv 8.0E-06 0.820 1.000 4 1998 2016
dbSNP: rs121909173
rs121909173
HESX1
5 0.851 0.240 3 57199901 missense variant C/G snv 2.8E-05 1.4E-05 0.710 0.750 4 2001 2016
dbSNP: rs1238248024
rs1238248024
HESX1
2 0.925 0.080 3 57198953 splice acceptor variant C/A;G snv 0.700 1.000 3 1998 2009
dbSNP: rs104893742
rs104893742
HESX1
3 0.882 0.160 3 57198405 missense variant C/T snv 8.0E-06 2.8E-05 0.700 1.000 2 2001 2007
dbSNP: rs28936703
rs28936703
HESX1
1 1.000 0.080 3 57198246 missense variant G/A snv 3.6E-05 7.0E-06 0.700 1.000 2 1998 2001
dbSNP: rs28936704
rs28936704
HESX1
1 1.000 0.080 3 57198214 missense variant T/C snv 1.0E-04 7.7E-05 0.700 1.000 2 2001 2007
dbSNP: rs28936416
rs28936416
HESX1
2 0.925 0.120 3 57199842 missense variant A/G snv 0.700 0
dbSNP: rs754137696
rs754137696
HESX1
2 0.925 0.160 3 57198797 missense variant A/C snv 1.9E-04 1.4E-05 0.700 0
dbSNP: rs758022116
rs758022116
RALGAPB
13 0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06 0.700 0
dbSNP: rs768165720
rs768165720
HESX1
2 0.925 0.120 3 57198784 missense variant C/T snv 7.6E-05 1.1E-04 0.700 0
dbSNP: rs777223697
rs777223697
HESX1
2 0.925 0.160 3 57198802 stop gained A/T snv 8.0E-06 0.700 0
dbSNP: rs777833871
rs777833871
HESX1
2 0.925 0.160 3 57198870 frameshift variant T/- del 1.4E-05 0.700 0
dbSNP: rs1064795738
rs1064795738
TUBA1A
2 0.925 0.120 12 49185651 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs140670828
rs140670828
ANOS1
1 1.000 0.080 X 8587965 missense variant C/G snv 2.1E-04 1.9E-04 0.010 1.000 1 2015 2015
dbSNP: rs148480919
rs148480919
FGFR1
1 1.000 0.080 8 38429704 synonymous variant G/A snv 4.5E-04 1.5E-03 0.010 1.000 1 2012 2012
dbSNP: rs201023639
rs201023639
PROKR2
1 1.000 0.080 20 5302084 missense variant C/G;T snv 4.4E-05; 6.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs370632378
rs370632378
ANOS1
1 1.000 0.080 X 8570690 missense variant G/T snv 2.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs934813061
rs934813061
FGFR1
1 1.000 0.080 8 38429803 synonymous variant G/C snv 0.010 1.000 1 2012 2012
dbSNP: rs9878928
rs9878928
HESX1
2 0.925 0.080 3 57198476 missense variant T/C snv 1.8E-02 7.4E-02 0.010 1.000 1 2010 2010