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: rs17235409
rs17235409
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.010 1.000 1 2007 2007
dbSNP: rs2279014
rs2279014
1 1.000 0.040 2 218396453 3 prime UTR variant C/T snv 0.37 0.010 1.000 1 2012 2012
dbSNP: rs34298354
rs34298354
1 1.000 0.040 1 247424751 synonymous variant C/T snv 0.10 8.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs3804100
rs3804100
36 0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs3806268
rs3806268
2 0.925 0.200 1 247424175 synonymous variant G/A;T snv 0.50; 4.8E-05 0.010 1.000 1 2019 2019