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: rs139565972
rs139565972
1 1.000 0.120 10 101770595 missense variant C/A;T snv 6.0E-05 7.7E-05 0.700 0
dbSNP: rs1490604080
rs1490604080
1 1.000 0.120 10 101771462 splice donor variant C/T snv 0.700 0
dbSNP: rs1554834321
rs1554834321
1 1.000 0.120 10 101770491 inframe deletion GCCGGCCCTTGCGGG/- delins 0.700 0
dbSNP: rs1554834889
rs1554834889
1 1.000 0.120 10 101774912 missense variant C/G snv 0.700 0
dbSNP: rs1554834892
rs1554834892
1 1.000 0.120 10 101774913 splice acceptor variant C/T snv 0.700 0
dbSNP: rs61730334
rs61730334
1 1.000 0.120 10 101771509 missense variant G/A;C snv 8.0E-06 0.700 0
dbSNP: rs876661329
rs876661329
2 0.925 0.120 10 101771551 missense variant G/A snv 0.700 0
dbSNP: rs876661330
rs876661330
3 0.882 0.160 10 101771522 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs876661331
rs876661331
1 1.000 0.120 10 101770447 missense variant C/T snv 0.700 0
dbSNP: rs377240055
rs377240055
1 1.000 0.120 10 101770498 missense variant C/T snv 0.010 1.000 1 2011 2011