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: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
4 0.925 0.040 12 21817283 missense variant C/T snv 0.700 1.000 8 1999 2013
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: rs121918608
rs121918608
AHCY
3 1.000 0.080 20 34292375 missense variant T/C snv 8.0E-05 9.1E-05 0.700 1.000 5 2006 2016
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: 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: rs886041065
rs886041065
ASXL2
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
dbSNP: rs1553245943
rs1553245943
ATP1A2
2 1.000 0.080 1 160137001 missense variant G/A snv 0.700 1.000 12 1992 2017
dbSNP: rs1557100594
rs1557100594
AVPR2
3 0.925 0.080 X 153905887 inframe deletion TAC/- delins 0.700 1.000 9 1999 2015
dbSNP: rs1555202806
rs1555202806
BBS10
3 1.000 0.120 12 76348313 frameshift variant AACGCCGC/- delins 0.700 1.000 17 1999 2013
dbSNP: rs549625604
rs549625604
BBS10
13 0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 0.700 1.000 17 1999 2013
dbSNP: rs768933093
rs768933093
BBS10
10 0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 0.700 1.000 17 1999 2013
dbSNP: rs778431173
rs778431173
BBS10
1 12 76346181 missense variant C/A;G snv 4.0E-06 7.0E-06 0.700 1.000 17 1999 2013
dbSNP: rs567573386
rs567573386
BBS2
5 0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05 0.700 1.000 3 2007 2013
dbSNP: rs1314314373
rs1314314373
BCL11B
4 1.000 14 99176115 stop gained G/A;C snv 4.1E-06 0.700 1.000 19 2003 2016
dbSNP: rs1554931219
rs1554931219
BDNF ; BDNF-AS
2 11 27658063 stop gained C/A snv 0.700 1.000 6 2001 2018
dbSNP: rs80359636
rs80359636
BRCA2
7 0.851 0.240 13 32354921 frameshift variant CT/- delins 2.8E-05 0.700 1.000 6 2005 2013
dbSNP: rs762904815
rs762904815
BRPF1
3 1.000 3 9744394 frameshift variant C/-;CC;CCC delins 0.700 1.000 2 2017 2017
dbSNP: rs587777618
rs587777618
CCND2
4 0.925 12 4299977 missense variant A/G snv 0.700 1.000 13 2004 2018
dbSNP: rs1555440555
rs1555440555
CHD2
2 1.000 15 92953386 missense variant T/C snv 0.700 1.000 12 2007 2017
dbSNP: rs1566446604
rs1566446604
CHD8
6 0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins 0.700 1.000 4 2012 2016
dbSNP: rs774152851
rs774152851
CHD8 ; SNORD9
2 1.000 14 21394188 frameshift variant G/-;GG delins 0.700 1.000 12 2008 2017
dbSNP: rs1553631770
rs1553631770
CTNNB1
4 1.000 3 41233398 missense variant A/T snv 0.700 1.000 22 1991 2017
dbSNP: rs1556220623
rs1556220623
CUL4B
2 1.000 X 120547191 stop gained G/A snv 0.700 1.000 10 2000 2017