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: rs121912973
rs121912973
3 0.882 0.040 21 43172105 missense variant G/A snv 0.800 1.000 16 1998 2013
dbSNP: rs397515624
rs397515624
4 0.851 0.040 21 43169133 missense variant C/T snv 4.0E-06 0.800 1.000 12 1998 2013
dbSNP: rs74315439
rs74315439
7 0.790 0.200 21 43172104 missense variant C/A;T snv 0.800 1.000 7 1998 2013
dbSNP: rs74315441
rs74315441
3 0.882 0.040 21 43169244 missense variant C/T snv 8.0E-06 0.800 1.000 7 1998 2013
dbSNP: rs397515623
rs397515623
2 0.925 0.200 21 43169259 missense variant C/T snv 0.700 0
dbSNP: rs397515625
rs397515625
3 0.882 0.200 21 43169160 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs397515626
rs397515626
2 0.925 0.200 21 43169161 missense variant G/A snv 1.2E-05 0.700 0
dbSNP: rs398122947
rs398122947
3 0.882 0.040 21 43170619 missense variant G/A snv 0.700 0
dbSNP: rs375713569
rs375713569
SDS
2 0.925 0.040 12 113398748 missense variant G/A;C snv 3.6E-05; 1.2E-05 0.020 1.000 2 2007 2011
dbSNP: rs864309693
rs864309693
MIP
3 0.882 0.200 12 56454517 missense variant G/A snv 0.010 1.000 1 2013 2013