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: rs4972431
rs4972431
1 2 174134460 intron variant C/T snv 0.53 0.700 1.000 1 2010 2010
dbSNP: rs4976846
rs4976846
1 13 109168863 intron variant T/C snv 0.29 0.700 1.000 1 2010 2010
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2006 2006
dbSNP: rs655683
rs655683
1 11 88943686 intron variant G/T snv 0.27 0.700 1.000 1 2010 2010
dbSNP: rs749495848
rs749495848
2 9 117713210 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs780935825
rs780935825
1 9 117713547 synonymous variant C/T snv 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs7830326
rs7830326
1 8 39210657 intron variant A/G snv 0.46 0.700 1.000 1 2010 2010