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: rs2301600
rs2301600
MAG
2 0.925 0.040 19 35295965 missense variant C/G;T snv 0.27 0.800 1.000 3 2014 2016
dbSNP: rs587777229
rs587777229
MAG
1 1.000 19 35309930 missense variant T/G snv 0.800 1.000 3 2014 2016
dbSNP: rs762045079
rs762045079
MAG
1 1.000 19 35295919 missense variant G/A;T snv 8.0E-06 7.0E-06 0.700 1.000 3 2014 2016
dbSNP: rs771777424
rs771777424
MAG
1 1.000 19 35299646 stop gained -/AGCTG delins 4.2E-06; 4.2E-06 0.700 0