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: rs13379905
rs13379905
2 1.000 0.040 15 98649254 5 prime UTR variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs148446907
rs148446907
AGT
3 0.925 0.080 1 230710026 synonymous variant G/A;C snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs5186
rs5186
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.010 1.000 1 2011 2011
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2014 2014
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2014 2014