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: rs121913413
rs121913413
CTNNB1
11 0.763 0.240 3 41224634 missense variant C/A;T snv 0.010 1.000 1 1999 1999
dbSNP: rs121913506
rs121913506
KIT
24 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.010 1.000 1 1999 1999
dbSNP: rs137853080
rs137853080
STK11
2 1.000 0.040 19 1207058 missense variant T/G snv 0.010 1.000 1 1999 1999
dbSNP: rs139142865
rs139142865
ACVRL1
2 1.000 0.120 12 51920826 missense variant C/T snv 1.6E-03 2.0E-03 0.010 1.000 1 1999 1999
dbSNP: rs1474630243
rs1474630243
MTX1 ; THBS3
1 1 155209072 missense variant G/T snv 0.010 1.000 1 1999 1999
dbSNP: rs34012126
rs34012126
SLC12A9
1 7 100855831 frameshift variant G/- delins 0.010 1.000 1 1999 1999
dbSNP: rs779179533
rs779179533
TP63
2 1.000 0.080 3 189808322 missense variant G/C snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs80358225
rs80358225
TACSTD2
2 1.000 0.120 1 58576648 stop gained G/T snv 0.010 1.000 1 1999 1999
dbSNP: rs886039413
rs886039413
MEN1
1 11 64809818 stop gained G/A snv 0.010 1.000 1 1999 1999
dbSNP: rs1307973611
rs1307973611
RIMS2
2 1.000 0.080 8 104014523 missense variant G/C;T snv 0.010 1.000 1 2000 2000
dbSNP: rs1362888828
rs1362888828
TIAM1
3 0.925 0.120 21 31266532 synonymous variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs17006625
rs17006625
KAT2B
3 0.925 0.080 3 20119604 missense variant A/C;G snv 4.0E-06; 3.3E-02 0.010 < 0.001 1 2000 2000
dbSNP: rs367597251
rs367597251
MDM2
10 0.807 0.080 12 68839587 missense variant A/G snv 1.5E-04 5.1E-04 0.010 1.000 1 2000 2000
dbSNP: rs377522479
rs377522479
ARHGAP24
4 0.882 0.080 4 85931021 missense variant C/T snv 2.0E-05 3.5E-05 0.010 1.000 1 2000 2000
dbSNP: rs523349
rs523349
SRD5A2
21 0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06 0.010 1.000 1 2000 2000
dbSNP: rs553863637
rs553863637
PLEK
3 0.925 0.120 2 68382602 missense variant G/A;C snv 4.8E-05 0.010 1.000 1 2000 2000
dbSNP: rs587780070
rs587780070
TP53
24 0.683 0.320 17 7675077 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs749098599
rs749098599
TP73
4 0.882 0.080 1 3683085 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs878853941
rs878853941
PTEN
2 1.000 0.080 10 87952168 frameshift variant -/T delins 0.010 1.000 1 2000 2000
dbSNP: rs1017621656
rs1017621656
TGFB1
3 0.925 0.080 19 41352923 missense variant A/C;G snv 1.9E-05 0.010 1.000 1 2001 2001
dbSNP: rs1277299943
rs1277299943
CDKN2A
1 9 21974817 missense variant G/C snv 1.3E-05 0.010 1.000 1 2001 2001
dbSNP: rs137853007
rs137853007
CHEK2
9 0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05 0.010 1.000 1 2001 2001
dbSNP: rs1456079929
rs1456079929
PGR
5 0.851 0.120 11 101042001 missense variant C/A snv 8.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs149968577
rs149968577
AGER
1 6 32181364 stop gained G/A;C snv 1.0E-04 0.010 1.000 1 2001 2001
dbSNP: rs541717889
rs541717889
VEGFA
1 6 43770888 missense variant G/C snv 2.1E-05 0.010 1.000 1 2001 2001