Source: ALL
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: rs757167361
rs757167361
DPH1
4 0.925 17 2030171 missense variant T/A;C;G snv 0.800 1.000 2 2015 2015
dbSNP: rs730882250
rs730882250
DPH1
5 0.882 0.080 17 2039760 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.800 0
dbSNP: rs200530055
rs200530055
DPH1
1 1.000 17 2036050 missense variant T/C snv 2.9E-04 2.8E-04 0.700 0