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: rs6232
rs6232
2 0.925 0.080 5 96416081 missense variant T/C snv 3.9E-02 3.2E-02 0.100 1.000 13 2006 2019
dbSNP: rs6235
rs6235
8 0.925 0.120 5 96393194 missense variant C/G snv 0.26 0.23 0.100 0.700 10 2008 2015
dbSNP: rs6234
rs6234
8 0.851 0.160 5 96393270 missense variant G/C snv 0.27 0.24 0.050 0.600 5 2008 2015
dbSNP: rs155971
rs155971
1 1.000 0.080 5 96414692 intron variant T/C snv 0.57 0.010 1.000 1 2010 2010
dbSNP: rs750845408
rs750845408
2 0.925 0.080 5 96423317 missense variant T/C snv 4.5E-05 7.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs765019354
rs765019354
1 1.000 0.080 5 96429260 stop gained G/A;C snv 4.0E-06; 1.6E-05 0.010 1.000 1 2015 2015