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: rs1555729045
rs1555729045
KMT2B
1 19 35721772 stop gained C/T snv 0.700 1.000 9 1999 2017
dbSNP: rs1555732987
rs1555732987
KMT2B
1 19 35732782 frameshift variant -/GCACGCCTCCTTCGGGGCCAGG delins 0.700 1.000 9 1999 2017
dbSNP: rs1555734923
rs1555734923
KMT2B
1 19 35738078 stop gained C/T snv 0.700 1.000 9 1999 2017
dbSNP: rs1554008611
rs1554008611
CTNND2
1 5 11236825 splice acceptor variant T/C snv 0.700 1.000 8 2003 2017
dbSNP: rs1161032867
rs1161032867
FUS
1 16 31191070 frameshift variant G/-;GGGG delins 0.700 1.000 7 2009 2015
dbSNP: rs1555924435
rs1555924435
TCF20
2 22 42210938 frameshift variant G/- delins 0.700 1.000 7 2007 2017
dbSNP: rs1213060424
rs1213060424
DLG3
2 X 70449787 stop gained C/A;T snv 0.700 1.000 6 2004 2017
dbSNP: rs1468358104
rs1468358104
FLVCR1 ; FLVCR1-DT
3 1 212858454 start lost T/C snv 3.7E-05 0.700 1.000 6 1997 2016
dbSNP: rs1555706706
rs1555706706
MAN2B1
1 19 12649968 frameshift variant C/- delins 0.700 1.000 6 1981 2015
dbSNP: rs899735028
rs899735028
FLVCR1 ; FLVCR1-DT
2 1 212858455 start lost G/T snv 1.4E-05 0.700 1.000 6 1997 2016
dbSNP: rs963172852
rs963172852
PMPCA
2 9 136418848 missense variant C/T snv 8.0E-06 2.1E-05 0.700 1.000 6 1998 2016
dbSNP: rs1350201776
rs1350201776
ZNF335
3 20 45952244 missense variant C/T snv 4.0E-06 0.700 1.000 5 2009 2016
dbSNP: rs1553597538
rs1553597538
BCS1L
1 2 218662571 frameshift variant CT/- delins 0.700 1.000 5 2001 2009
dbSNP: rs1554314738
rs1554314738
CCN6
1 6 112069431 frameshift variant -/C delins 0.700 1.000 5 2012 2018
dbSNP: rs1555851216
rs1555851216
ZNF335
1 20 45967790 frameshift variant -/G delins 0.700 1.000 5 2009 2016
dbSNP: rs1555912049
rs1555912049
PTCHD1
2 X 23379829 frameshift variant TGCACAGCAAAGAC/- del 0.700 1.000 5 2010 2015
dbSNP: rs201337850
rs201337850
MRPS22
2 3 139348309 stop gained T/G snv 4.0E-06 7.0E-06 0.700 1.000 5 2007 2017
dbSNP: rs377025174
rs377025174
BCS1L ; ZNF142
1 2 218661192 missense variant C/A;T snv 4.0E-06; 6.8E-05 0.700 1.000 5 2001 2009
dbSNP: rs150129663
rs150129663
ACO2
1 22 41518528 missense variant C/T snv 1.6E-05 2.1E-05 0.700 1.000 4 2012 2017
dbSNP: rs1554820931
rs1554820931
SETX
1 9 132328198 frameshift variant -/T delins 0.700 1.000 4 2004 2009
dbSNP: rs1554822175
rs1554822175
SETX
1 9 132331387 frameshift variant A/- delins 0.700 1.000 4 2004 2009
dbSNP: rs1555511101
rs1555511101
GAN
1 16 81354554 stop gained C/G snv 0.700 1.000 4 1990 2009
dbSNP: rs1555890974
rs1555890974
ACO2 ; POLR3H
1 22 41527919 frameshift variant AG/- del 0.700 1.000 4 2012 2017
dbSNP: rs750451693
rs750451693
CP
1 3 149210191 missense variant C/T snv 1.6E-05 2.1E-05 0.700 1.000 4 2003 2015
dbSNP: rs946006593
rs946006593
GATAD2B
2 1 153812108 stop gained G/A;C snv 0.700 1.000 4 2012 2016