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: rs138119149
rs138119149
AARS2 ; TMEM151B
11 0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 0.700 1.000 4 2011 2014
dbSNP: rs368934219
rs368934219
AARS2 ; TMEM151B
2 1.000 6 44303177 splice acceptor variant T/C snv 1.6E-05 1.4E-05 0.700 1.000 4 2011 2014
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
4 0.925 0.040 12 21817283 missense variant C/T snv 0.700 1.000 8 1999 2013
dbSNP: rs267604368
rs267604368
ACAN
2 1.000 15 88858712 stop gained G/A;T snv 0.700 1.000 11 1990 2017
dbSNP: rs1553255354
rs1553255354
ACTA1
2 1.000 1 229431843 missense variant C/G snv 0.700 1.000 9 2001 2015
dbSNP: rs104894003
rs104894003
ACTB
7 0.827 0.320 7 5528536 missense variant G/A snv 0.700 1.000 10 1999 2017
dbSNP: rs1554329552
rs1554329552
ACTB
1 1.000 7 5529265 missense variant G/C snv 0.700 1.000 10 1999 2017
dbSNP: rs769182426
rs769182426
ACTB
2 1.000 7 5528100 missense variant G/A;C snv 8.0E-06 0.700 1.000 10 1999 2017
dbSNP: rs797044950
rs797044950
ACTB
1 1.000 7 5528546 missense variant G/A;C snv 0.700 1.000 10 1999 2017
dbSNP: rs1555666392
rs1555666392
ACTG1
2 1.000 17 81510814 missense variant C/T snv 0.700 1.000 13 1990 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: rs1057518345
rs1057518345
ADNP
25 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 1.000 11 2001 2017
dbSNP: rs1555809919
rs1555809919
ADNP
2 1.000 20 50892427 frameshift variant A/-;AA delins 0.700 1.000 11 2001 2017
dbSNP: rs1555810308
rs1555810308
ADNP
1 1.000 20 50893377 stop gained C/T snv 0.700 1.000 11 2001 2017
dbSNP: rs587777526
rs587777526
ADNP
3 0.925 0.160 20 50892557 stop gained G/A;C;T snv 2.0E-05 0.700 1.000 11 2001 2017
dbSNP: rs886041116
rs886041116
ADNP
13 0.776 0.240 20 50892526 stop gained G/A snv 0.700 1.000 11 2001 2017
dbSNP: rs587776935
rs587776935
AKT3
7 0.827 0.120 1 243505296 missense variant G/A snv 0.700 1.000 8 1999 2017
dbSNP: rs368820286
rs368820286
ALDH7A1
3 1.000 5 126549924 splice region variant C/T snv 2.0E-05 1.4E-05 0.700 1.000 9 1996 2013
dbSNP: rs267606653
rs267606653
ALX4
3 0.925 11 44267607 stop gained G/A snv 0.700 1.000 6 2000 2012
dbSNP: rs137852217
rs137852217
AMER1
4 0.925 0.040 X 64192215 stop gained G/A;T snv 1.6E-05 0.700 1.000 8 1980 2017
dbSNP: rs1221781038
rs1221781038
ANKRD11
2 0.925 0.280 16 89279695 stop gained G/A;T snv 0.700 1.000 17 2004 2017
dbSNP: rs1555524861
rs1555524861
ANKRD11
1 1.000 16 89279215 stop gained G/A snv 0.700 1.000 17 2004 2017
dbSNP: rs1555526796
rs1555526796
ANKRD11
1 1.000 16 89281005 frameshift variant A/- delins 0.700 1.000 17 2004 2017