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: rs137853078
rs137853078
10 0.769 0.107 19 1220396 missense variant G/A snp 0.700 2 1998 1999
dbSNP: rs121913506
rs121913506
KIT
20 0.692 0.286 4 54733154 missense variant G/A,C,T snp 0.700 1 1999 1999
dbSNP: rs370432633
rs370432633
1 1.000 0.107 1 85267841 missense variant G/A snp 1.6E-05 0.700 1 1999 1999
dbSNP: rs1799889
rs1799889
12 0.734 0.321 7 101126430 intergenic variant A/G snp 0.010 1.000 1 2011 2011
dbSNP: rs2293275
rs2293275
4 0.846 0.214 2 48694236 missense variant T/C snp 0.61 0.52 0.010 1.000 1 2013 2013
dbSNP: rs4590952
rs4590952
4 0.846 0.143 12 88559882 intron variant A/G,T snp 0.67 0.010 1.000 1 2015 2015
dbSNP: rs523349
rs523349
22 0.662 0.429 2 31580636 missense variant G/A,C,T snp 0.66; 4.9E-06 0.70 0.010 1.000 1 2016 2016
dbSNP: rs755945494
rs755945494
ALB
2 0.923 0.107 4 73406759 missense variant C/G snp 2.0E-05 3.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs9282858
rs9282858
10 0.744 0.250 2 31580756 missense variant C/T snp 1.8E-02 2.0E-02 0.010 1.000 1 2016 2016