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: rs1553255354
rs1553255354
ACTA1
2 1.000 1 229431843 missense variant C/G snv 0.700 1.000 9 2001 2015
dbSNP: rs1553255501
rs1553255501
ACTA1
1 1 229432792 missense variant A/C snv 0.700 1.000 9 2001 2015
dbSNP: rs1553732126
rs1553732126
ADCY5
2 3 123347875 frameshift variant -/G delins 0.700 1.000 22 1992 2017
dbSNP: rs746547282
rs746547282
ADCY5
1 3 123330888 splice donor variant C/T snv 4.0E-06 7.0E-06 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: rs886041116
rs886041116
ADNP
13 0.776 0.240 20 50892526 stop gained G/A snv 0.700 1.000 11 2001 2017
dbSNP: rs766413410
rs766413410
AGK
4 0.925 0.080 7 141615468 splice region variant C/A;G;T snv 1.2E-05; 2.8E-05; 2.8E-05 0.700 1.000 6 2012 2017
dbSNP: rs777096695
rs777096695
AGK
3 1.000 0.080 7 141611288 splice donor variant G/A;T snv 4.1E-06 0.700 1.000 6 2012 2017
dbSNP: rs587779766
rs587779766
AHDC1
7 0.851 0.200 1 27549742 frameshift variant CA/- delins 0.700 0
dbSNP: rs587779767
rs587779767
AHDC1
7 0.851 0.200 1 27549218 frameshift variant G/- delins 0.700 0
dbSNP: rs587779768
rs587779768
AHDC1
7 0.851 0.200 1 27549569 frameshift variant G/- delins 0.700 0
dbSNP: rs587776935
rs587776935
AKT3
7 0.827 0.120 1 243505296 missense variant G/A snv 0.700 1.000 8 1999 2017
dbSNP: rs863225045
rs863225045
ALDH18A1
15 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0
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: 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: rs398122394
rs398122394
ALG13
17 0.763 0.240 X 111685040 missense variant A/G snv 0.700 0
dbSNP: rs767350733
rs767350733
ALS2
7 0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 0.700 1.000 7 1992 2017
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: rs1555528357
rs1555528357
ANKRD11
2 1.000 16 89282837 frameshift variant ATTT/- delins 0.700 1.000 17 2004 2017
dbSNP: rs1555528558
rs1555528558
ANKRD11
3 1.000 16 89283207 frameshift variant -/T delins 0.700 1.000 17 2004 2017
dbSNP: rs1555529297
rs1555529297
ANKRD11
2 1.000 16 89284412 stop gained C/T snv 0.700 1.000 17 2004 2017
dbSNP: rs878855327
rs878855327
ANKRD11
5 0.925 0.280 16 89279750 frameshift variant G/-;GG delins 0.700 1.000 17 2004 2017
dbSNP: rs886039477
rs886039477
ANKRD11
3 0.925 0.280 16 89282771 frameshift variant TT/- delins 0.700 1.000 17 2004 2017
dbSNP: rs1553259463
rs1553259463
AP4B1
2 1.000 1 113901815 stop gained GACAT/- delins 0.700 1.000 10 2009 2016