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: 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: rs1555890974
rs1555890974
ACO2 ; POLR3H
1 22 41527919 frameshift variant AG/- del 0.700 1.000 4 2012 2017
dbSNP: rs145588689
rs145588689
ADAR
4 0.882 0.200 1 154602065 missense variant G/C;T snv 2.2E-03; 4.0E-06 0.700 1.000 9 2003 2016
dbSNP: rs779357448
rs779357448
ADAR
3 0.925 0.080 1 154590246 frameshift variant CT/- del 8.0E-06 1.4E-05 0.700 1.000 9 2003 2016
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: rs142684762
rs142684762
ADGRG1
3 1.000 16 57659478 missense variant A/G snv 0.700 1.000 10 2003 2015
dbSNP: rs146278035
rs146278035
ADGRG1
4 0.925 0.080 16 57651421 stop gained C/T snv 4.0E-06 7.0E-06 0.700 1.000 10 2003 2015
dbSNP: rs779340209
rs779340209
ADNP
1 20 50892501 stop gained G/C snv 0.700 1.000 11 2001 2017
dbSNP: rs778127154
rs778127154
ALDH5A1
4 1.000 0.120 6 24515259 frameshift variant T/- del 5.6E-05 0.700 1.000 6 1994 2016
dbSNP: rs1554380093
rs1554380093
AP4M1
1 7 100105098 missense variant G/A snv 0.700 1.000 11 2009 2015
dbSNP: rs1554236054
rs1554236054
ARID1B
3 1.000 6 157201481 frameshift variant -/G delins 0.700 1.000 20 1984 2017
dbSNP: rs1555912285
rs1555912285
ASXL1
3 1.000 20 32435475 frameshift variant TGTTGAGC/CAA delins 0.700 1.000 7 2004 2015
dbSNP: rs119476050
rs119476050
ATL1
2 1.000 0.080 14 50628154 missense variant C/T snv 4.0E-06 0.700 1.000 3 2007 2013
dbSNP: rs864622269
rs864622269
ATL1
6 0.851 0.240 14 50628394 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 3 2007 2013
dbSNP: rs1555119899
rs1555119899
ATM ; C11orf65
7 0.925 0.240 11 108326149 missense variant G/C snv 0.700 0
dbSNP: rs1553245178
rs1553245178
ATP1A2
1 1 160130548 missense variant G/A snv 0.700 1.000 12 1992 2017
dbSNP: rs1064797245
rs1064797245
ATP1A3
12 0.776 0.280 19 41970540 missense variant G/A snv 0.700 1.000 27 1988 2017
dbSNP: rs200891944
rs200891944
ATP1A3
1 19 41981976 missense variant C/A;T snv 0.700 1.000 27 1988 2017
dbSNP: rs606231435
rs606231435
ATP1A3
18 0.827 0.240 19 41970539 missense variant C/T snv 0.700 1.000 27 1988 2017
dbSNP: rs1156904586
rs1156904586
ATP8A2
3 1.000 13 25577115 frameshift variant -/T delins 1.4E-05 0.700 1.000 5 2012 2017
dbSNP: rs1557082399
rs1557082399
ATRX
4 1.000 X 77593803 stop gained C/T snv 0.700 1.000 21 1992 2017
dbSNP: rs1553597538
rs1553597538
BCS1L
1 2 218662571 frameshift variant CT/- delins 0.700 1.000 5 2001 2009
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: rs369691608
rs369691608
BCS1L ; ZNF142
5 1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06 0.700 0