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: rs104893836
rs104893836
7 0.790 0.160 4 67754019 missense variant T/C snv 2.8E-03 2.3E-03 0.010 < 0.001 1 2014 2014
dbSNP: rs104893837
rs104893837
6 0.807 0.160 4 67740682 missense variant C/T snv 1.8E-03 1.3E-03 0.010 1.000 1 2006 2006
dbSNP: rs150344113
rs150344113
1 1.000 3 172445190 missense variant C/A;T snv 4.2E-04 0.010 1.000 1 2011 2011
dbSNP: rs17033889
rs17033889
1 1.000 4 103589735 missense variant C/A;T snv 1.7E-04; 5.3E-03 0.010 1.000 1 2012 2012
dbSNP: rs371872753
rs371872753
SDS
1 1.000 12 113397313 missense variant C/T snv 1.6E-05 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs755032608
rs755032608
1 1.000 3 172447909 missense variant C/T snv 2.4E-05 3.5E-05 0.010 1.000 1 2011 2011
dbSNP: rs773378963
rs773378963
2 0.925 0.080 12 57013599 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012