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: rs752169833
rs752169833
3 0.925 0.040 7 56102878 missense variant C/A;T snv 8.0E-06; 5.6E-05 0.800 1.000 1 2015 2015
dbSNP: rs864309650
rs864309650
4 0.851 0.040 7 56104344 missense variant G/A snv 0.800 1.000 1 2015 2015
dbSNP: rs750014782
rs750014782
1 1.000 7 56104221 splice region variant C/T snv 2.0E-05 0.700 0