Source: BEFREE ×
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: rs1154510
rs1154510
HPD ; LOC105370035
1 1.000 0.120 12 121857429 missense variant T/C snv 0.85 0.88 0.020 1.000 2 2000 2016
dbSNP: rs1276998235
rs1276998235
HPD
2 0.925 0.120 12 121847089 missense variant T/C snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs780501941
rs780501941
HPD
1 1.000 0.120 12 121847177 missense variant C/T snv 4.0E-06 3.5E-05 0.010 1.000 1 2016 2016