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: rs886041045
rs886041045
5 1.000 0.280 9 2086854 missense variant A/G snv 0.700 0
dbSNP: rs1223073957
rs1223073957
12 0.827 0.240 19 49835897 frameshift variant C/- delins 1.2E-05 1.4E-05 0.700 0
dbSNP: rs771148519
rs771148519
9 0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05 0.700 0
dbSNP: rs1057518791
rs1057518791
7 0.925 0.120 8 115604739 stop gained C/T snv 0.700 0
dbSNP: rs369691608
rs369691608
5 1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs776291104
rs776291104
12 0.827 0.240 19 49829816 missense variant C/T snv 8.7E-06 0.700 0
dbSNP: rs200661329
rs200661329
48 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
dbSNP: rs1057518960
rs1057518960
7 0.882 0.160 6 121447333 missense variant G/C snv 0.700 0
dbSNP: rs180177035
rs180177035
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006