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: rs200635937
rs200635937
GPR161
3 0.925 0.040 1 168104855 missense variant A/T snv 2.9E-03 8.0E-04 0.700 0
dbSNP: rs200361128
rs200361128
SOX3
2 1.000 0.040 X 140504904 missense variant C/G snv 7.4E-03 4.0E-03 0.010 1.000 1 2013 2013
dbSNP: rs7536561
rs7536561
ACBD6 ; LHX4 ; LHX4-AS1
1 1.000 0.040 1 180274389 missense variant A/G snv 0.48 0.41 0.010 1.000 1 2013 2013
dbSNP: rs760065621
rs760065621
HESX1
1 1.000 0.040 3 57199777 missense variant T/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs775025721
rs775025721
GHRHR
1 1.000 0.040 7 30969110 missense variant T/A;G snv 2.0E-05; 2.6E-05 0.010 1.000 1 2013 2013