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: rs104894270
rs104894270
3 0.882 0.160 11 47582436 missense variant C/T snv 1.6E-05 2.8E-05 0.800 1.000 3 2004 2018
dbSNP: rs142248674
rs142248674
1 1.000 11 47582124 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.700 1.000 3 2004 2018
dbSNP: rs28939714
rs28939714
3 0.882 0.160 11 47582140 missense variant C/G;T snv 4.0E-06 0.800 1.000 3 2004 2018