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: rs104893706
rs104893706
4 0.851 0.240 3 122284482 missense variant C/A snv 0.010 1.000 1 2015 2015
dbSNP: rs104893708
rs104893708
4 0.851 0.160 3 122257269 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs104893710
rs104893710
5 0.851 0.200 3 122284413 missense variant C/T snv 0.010 1.000 1 2002 2002
dbSNP: rs1394440820
rs1394440820
1 1.000 0.040 3 122284484 missense variant G/A snv 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1482119762
rs1482119762
4 0.851 0.200 3 122261693 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs397514728
rs397514728
4 0.851 0.160 3 122261697 missense variant C/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs397514729
rs397514729
3 0.882 0.120 3 122254274 missense variant A/G snv 0.010 1.000 1 2006 2006