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: rs63749871
rs63749871
2 0.925 0.080 12 32602217 missense variant T/C;G snv 4.0E-06 0.700 1.000 2 2007 2007
dbSNP: rs118203974
rs118203974
2 0.925 0.080 12 32601410 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1393673267
rs1393673267
1 1.000 0.080 12 32602315 frameshift variant C/- del 3.5E-05 0.700 0
dbSNP: rs1555223595
rs1555223595
1 1.000 0.080 12 32633650 frameshift variant CA/- delins 0.700 0
dbSNP: rs281865063
rs281865063
1 1.000 0.080 12 32611270 missense variant G/A snv 0.700 0
dbSNP: rs281865064
rs281865064
1 1.000 0.080 12 32625716 coding sequence variant G/H snv 0.700 0
dbSNP: rs281865065
rs281865065
2 0.925 0.080 12 32633547 splice acceptor variant A/G snv 0.700 0
dbSNP: rs778377449
rs778377449
1 1.000 0.080 12 32625747 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0