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: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.100 1.000 14 2008 2019
dbSNP: rs1057519804
rs1057519804
2 1.000 0.040 14 104776711 missense variant G/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1380514442
rs1380514442
1 14 104780205 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs764931115
rs764931115
3 0.925 0.200 14 104780148 missense variant T/C snv 4.0E-06 0.010 1.000 1 2002 2002