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: rs2230912
rs2230912
16 0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 0.060 1.000 6 2006 2019
dbSNP: rs1621388
rs1621388
1 1.000 0.040 12 121184760 synonymous variant G/A;C snv 0.34; 1.3E-05 0.010 1.000 1 2019 2019
dbSNP: rs1718119
rs1718119
21 0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2230911
rs2230911
6 0.807 0.360 12 121177328 missense variant C/G snv 0.14 0.12 0.010 1.000 1 2019 2019
dbSNP: rs3751143
rs3751143
12 0.742 0.480 12 121184501 missense variant A/C;G snv 0.19; 4.0E-06 0.010 1.000 1 2019 2019