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: rs1060501395
rs1060501395
SMARCE1
1 17 40636451 stop gained G/A snv 0.700 0
dbSNP: rs121909231
rs121909231
PTEN
32 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
dbSNP: rs121913293
rs121913293
PTEN
18 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 0
dbSNP: rs1224040268
rs1224040268
PTEN
12 0.742 0.360 10 87931091 splice donor variant T/A;C snv 7.0E-06 0.700 0
dbSNP: rs1555605347
rs1555605347
SMARCE1
1 17 40631651 stop gained G/A snv 0.700 0
dbSNP: rs1555605750
rs1555605750
SMARCE1
1 17 40636017 frameshift variant GC/A delins 0.700 0
dbSNP: rs202247756
rs202247756
SUFU
2 1.000 0.080 10 102550019 missense variant C/T snv 0.700 0
dbSNP: rs370795352
rs370795352
PTEN
13 0.742 0.360 10 87933163 missense variant T/A;C snv 4.0E-06 0.700 0
dbSNP: rs387906857
rs387906857
SMARCE1
2 1.000 17 40637511 missense variant T/C;G snv 0.700 0
dbSNP: rs397509405
rs397509405
SMARCE1
1 17 40631693 stop gained G/A snv 0.700 0
dbSNP: rs397509406
rs397509406
SMARCE1
1 17 40637490 splice donor variant A/G snv 0.700 0
dbSNP: rs397509407
rs397509407
SMARCE1
1 17 40636453 stop gained C/G;T snv 0.700 0
dbSNP: rs397509408
rs397509408
SMARCE1
1 17 40632336 frameshift variant -/G delins 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs797045990
rs797045990
SMARCE1
1 17 40632282 frameshift variant CACT/- delins 0.700 0
dbSNP: rs863224909
rs863224909
PTEN
14 0.732 0.360 10 87960952 stop gained C/A;G snv 0.700 0
dbSNP: rs878854603
rs878854603
SMARCE1
1 17 40635947 frameshift variant A/- del 0.700 0