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: rs267607144
rs267607144
TRPV4
17 0.716 0.360 12 109800665 missense variant C/T snv 0.700 1.000 24 1976 2017
dbSNP: rs797044884
rs797044884
CLTC ; PTRH2
4 0.925 17 59677123 frameshift variant -/GA delins 0.700 1.000 23 1976 2017
dbSNP: rs1553631770
rs1553631770
CTNNB1
4 1.000 3 41233398 missense variant A/T snv 0.700 1.000 22 1991 2017
dbSNP: rs1553631783
rs1553631783
CTNNB1
2 3 41233416 frameshift variant G/- delins 0.700 1.000 22 1991 2017
dbSNP: rs1555039606
rs1555039606
KMT2A
2 1.000 11 118482436 frameshift variant A/- delins 0.700 1.000 22 1989 2017
dbSNP: rs1555046615
rs1555046615
KMT2A
3 1.000 11 118503389 frameshift variant A/- del 0.700 1.000 22 1989 2017
dbSNP: rs1555047506
rs1555047506
KMT2A
2 11 118505003 frameshift variant GTTT/- delins 0.700 1.000 22 1989 2017
dbSNP: rs1555393172
rs1555393172
DLL4
1 15 40936659 frameshift variant CGGACGACGGC/- delins 0.700 1.000 22 1996 2013
dbSNP: rs781978013
rs781978013
KMT2A
3 1.000 11 118472681 stop gained G/A;T snv 4.0E-06 0.700 1.000 22 1989 2017
dbSNP: rs782297546
rs782297546
KMT2A
5 0.925 0.240 11 118473471 frameshift variant C/-;CC delins 0.700 1.000 22 1989 2017
dbSNP: rs797044875
rs797044875
CTNNB1
3 1.000 3 41235763 missense variant G/A snv 0.700 1.000 22 1991 2017
dbSNP: rs1057521083
rs1057521083
SATB2
4 0.925 0.200 2 199348709 missense variant G/A snv 0.700 1.000 21 1989 2017
dbSNP: rs122445110
rs122445110
ATRX
4 0.882 0.200 X 77589902 missense variant A/G snv 0.700 1.000 21 1992 2017
dbSNP: rs137852813
rs137852813
SOS1
11 0.807 0.200 2 39051202 missense variant A/C;G snv 0.700 1.000 21 2002 2016
dbSNP: rs1553551705
rs1553551705
SATB2
2 1.000 2 199349065 frameshift variant GT/- delins 0.700 1.000 21 1989 2017
dbSNP: rs1557082399
rs1557082399
ATRX
4 1.000 X 77593803 stop gained C/T snv 0.700 1.000 21 1992 2017
dbSNP: rs397517172
rs397517172
SOS1
3 0.925 0.160 2 39056704 missense variant T/C snv 0.700 1.000 21 2002 2016
dbSNP: rs397517174
rs397517174
SOS1
3 0.925 0.160 2 39054822 missense variant A/C;G snv 0.700 1.000 21 2002 2016
dbSNP: rs1064793083
rs1064793083
CHD7
4 0.882 0.080 8 60828682 missense variant C/T snv 0.700 1.000 20 1999 2016
dbSNP: rs1554231814
rs1554231814
ARID1B
1 6 157184262 frameshift variant C/- del 0.700 1.000 20 1984 2017
dbSNP: rs1554234424
rs1554234424
ARID1B
2 1.000 6 157196295 stop gained T/A snv 0.700 1.000 20 1984 2017
dbSNP: rs1554236054
rs1554236054
ARID1B
3 1.000 6 157201481 frameshift variant -/G delins 0.700 1.000 20 1984 2017
dbSNP: rs1554599036
rs1554599036
CHD7
4 1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del 0.700 1.000 20 1999 2016
dbSNP: rs1554602465
rs1554602465
CHD7
4 0.882 0.080 8 60845063 missense variant G/A snv 0.700 1.000 20 1999 2016
dbSNP: rs1554603550
rs1554603550
CHD7
1 8 60850514 missense variant T/G snv 0.700 1.000 20 1999 2016