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: rs1554380093
rs1554380093
AP4M1
1 7 100105098 missense variant G/A snv 0.700 1.000 11 2009 2015
dbSNP: rs1555050165
rs1555050165
GRIA4
3 0.925 0.200 11 105926814 missense variant A/G snv 0.700 1.000 20 1992 2016
dbSNP: rs1555119899
rs1555119899
ATM ; C11orf65
7 0.925 0.240 11 108326149 missense variant G/C snv 0.700 0
dbSNP: rs1555302735
rs1555302735
COL4A1
1 13 110173899 splice donor variant C/T snv 0.700 1.000 18 1984 2015
dbSNP: rs1555303010
rs1555303010
COL4A1
2 13 110176450 missense variant C/T snv 0.700 1.000 18 1984 2015
dbSNP: rs1064795935
rs1064795935
COL4A1
3 1.000 13 110181389 missense variant C/T snv 0.700 1.000 18 1984 2015
dbSNP: rs786205232
rs786205232
KCNA2
5 0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 0.700 1.000 28 1991 2017
dbSNP: rs886041761
rs886041761
KCNA2
6 0.925 0.200 1 110603902 missense variant C/T snv 0.700 1.000 28 1991 2017
dbSNP: rs1554314738
rs1554314738
CCN6
1 6 112069431 frameshift variant -/C delins 0.700 1.000 5 2012 2018
dbSNP: rs781986930
rs781986930
CCN6
2 1.000 0.040 6 112069565 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.700 1.000 5 2012 2018
dbSNP: rs1554008611
rs1554008611
CTNND2
1 5 11236825 splice acceptor variant T/C snv 0.700 1.000 8 2003 2017
dbSNP: rs1554086554
rs1554086554
KCNN2
1 5 114404815 inframe deletion TAT/- delins 0.700 1.000 21 1999 2016
dbSNP: rs1555243099
rs1555243099
MED13L
2 1.000 12 115982526 missense variant A/T snv 0.700 1.000 16 1971 2018
dbSNP: rs1555247853
rs1555247853
MED13L
2 1.000 12 116008553 frameshift variant CCC/TGTTCGAG delins 0.700 1.000 16 1971 2018
dbSNP: rs782297546
rs782297546
KMT2A
5 0.925 0.240 11 118473471 frameshift variant C/-;CC 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: rs397517076
rs397517076
CBL
3 0.925 0.160 11 119278165 splice acceptor variant G/C;T snv 0.700 1.000 7 2010 2017
dbSNP: rs1556213001
rs1556213001
CUL4B
1 X 120544122 stop gained C/A snv 0.700 1.000 10 2000 2017
dbSNP: rs869320802
rs869320802
CTBP1 ; CTBP1-AS
2 1.000 4 1213028 missense variant G/A snv 0.700 1.000 3 1995 2017
dbSNP: rs1554200990
rs1554200990
GJA1
4 1.000 6 121446960 missense variant G/C snv 0.700 1.000 12 2003 2017
dbSNP: rs1553732126
rs1553732126
ADCY5
2 3 123347875 frameshift variant -/G delins 0.700 1.000 22 1992 2017
dbSNP: rs864309483
rs864309483
ADCY5
9 0.851 0.080 3 123352464 missense variant G/A snv 0.700 1.000 22 1992 2017
dbSNP: rs80338680
rs80338680
MAN2B1
2 1.000 0.080 19 12649932 missense variant G/A;C;T snv 2.3E-04; 4.0E-06 0.700 1.000 6 1981 2015
dbSNP: rs1555706706
rs1555706706
MAN2B1
1 19 12649968 frameshift variant C/- delins 0.700 1.000 6 1981 2015