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: rs770374710
rs770374710
MAGEL2
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs121909173
rs121909173
HESX1
5 0.851 0.240 3 57199901 missense variant C/G snv 2.8E-05 1.4E-05 0.010 < 0.001 1 2008 2008
dbSNP: rs1441753402
rs1441753402
LHX3
1 1.000 0.080 9 136198942 missense variant G/A snv 4.8E-06 0.010 1.000 1 2019 2019
dbSNP: rs73637709
rs73637709
SOX3
1 1.000 0.080 X 140504934 missense variant C/G;T snv 6.7E-06; 6.3E-03 0.010 1.000 1 2005 2005