Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060503757
SDHB
0.882 0.080 1 17024024 frameshift variant G/- delins 5
rs1060500122
PTEN
1.000 0.080 10 87933204 stop gained C/T snv 2
rs1064793243
PTEN
1.000 0.080 10 87933082 missense variant T/C snv 2
rs1114167624
PTEN
1.000 0.080 10 87961120 splice donor variant T/C;G snv 2
rs121913291
PTEN
0.925 0.080 10 87961055 frameshift variant A/-;AA delins 2
rs1554897280
PTEN
1.000 0.080 10 87925558 splice donor variant G/A;T snv 2
rs1554898053
PTEN
1.000 0.080 10 87933018 stop gained C/T snv 2
rs398123330
PTEN
1.000 0.080 10 87961048 frameshift variant CTTT/- del 2
rs587782607
PTEN
1.000 0.080 10 87960914 stop gained G/A snv 2
rs747518441
SDHB
1.000 0.080 1 17022723 missense variant C/A;T snv 4.0E-06; 8.0E-06 2
rs762518389
PTEN
0.925 0.080 10 87894089 missense variant C/A;G;T snv 4.0E-06 2
rs786201816
PTEN
1.000 0.080 10 87961100 stop gained C/G;T snv 4.0E-06 7.0E-06 2
rs786204859
PTEN
0.925 0.080 10 87933166 missense variant G/A snv 2
rs121909230
PTEN
0.925 0.080 10 87933094 missense variant T/C snv 1
rs121913292
PTEN
1.000 0.080 10 87933148 frameshift variant G/- del 1
rs1554890324
KLLN ; PTEN
1.000 0.080 10 87864470 start lost A/G snv 1
rs1554898161
PTEN
1.000 0.080 10 87933173 stop gained T/G snv 1
rs1554900534
PTEN
1.000 0.080 10 87952133 missense variant A/C;G snv 1
rs1564566706
PTEN
1.000 0.080 10 87957851 splice acceptor variant A/G snv 1
rs1564568689
PTEN
1.000 0.080 10 87961112 frameshift variant T/- delins 1
rs1564828909
PTEN
1.000 0.080 10 87931040 splice acceptor variant TTTTA/- del 1
rs1564828914
PTEN
1.000 0.080 10 87931044 splice acceptor variant A/G snv 1
rs730882131
PTEN
1.000 0.080 10 87957999 stop gained C/T snv 1
rs786204862
PTEN
1.000 0.080 10 87952117 splice acceptor variant G/A snv 1
rs786204928
PTEN
1.000 0.080 10 87933048 stop gained C/G;T snv 7.0E-06 1