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: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 4 2015 2019
dbSNP: rs7542665
rs7542665
L1TD1
9 0.790 0.080 1 62207365 missense variant T/C snv 0.63 0.67 0.700 1.000 1 2019 2019
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.020 1.000 2 2002 2011
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2002 2002
dbSNP: rs1057941
rs1057941
GBAP1
18 0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs12979278
rs12979278
MAMSTR
9 0.790 0.080 19 48715345 synonymous variant C/T snv 0.46 0.40 0.700 1.000 1 2019 2019
dbSNP: rs2229080
rs2229080
DCC
16 0.742 0.320 18 52906232 missense variant C/A;G snv 0.45 0.010 1.000 1 1997 1997
dbSNP: rs2070699
rs2070699
EDN1
14 0.752 0.080 6 12292539 intron variant G/C;T snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs2236225
rs2236225
MTHFD1
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.010 1.000 1 2017 2017
dbSNP: rs3181245
rs3181245
TDP2
10 0.790 0.080 6 24651092 intron variant C/G snv 0.42 0.46 0.700 1.000 1 2015 2015
dbSNP: rs174533
rs174533
MYRF ; TMEM258
18 0.763 0.160 11 61781553 intron variant G/A snv 0.37 0.29 0.700 1.000 1 2019 2019
dbSNP: rs10936599
rs10936599
MYNN
32 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 0.700 1.000 1 2010 2010
dbSNP: rs2293581
rs2293581
GREM1 ; LOC100131315
10 0.776 0.080 15 32718535 5 prime UTR variant G/A;C snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs2293582
rs2293582
GREM1 ; LOC100131315
9 0.790 0.080 15 32718211 non coding transcript exon variant G/A snv 0.23 0.20 0.700 1.000 1 2015 2015
dbSNP: rs1566734
rs1566734
PTPRJ
10 0.807 0.120 11 48123823 missense variant A/C snv 0.17 0.15 0.010 1.000 1 2008 2008
dbSNP: rs4836891
rs4836891
OR1J2
9 0.790 0.080 9 122511295 missense variant G/A snv 9.8E-02 6.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs16845107
rs16845107
CFAP44 ; CFAP44-AS1
9 0.790 0.080 3 113409144 missense variant C/A snv 7.2E-02 7.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs11692435
rs11692435
ACTR1B
10 0.790 0.080 2 97658891 missense variant G/A snv 7.0E-02 6.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs11727676
rs11727676
HHIP
14 0.776 0.080 4 144737912 synonymous variant T/C snv 6.6E-02 6.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs72942485
rs72942485
BOC
10 0.776 0.080 3 113280713 intron variant G/A snv 2.7E-02 4.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs11571818
rs11571818
BRCA2
17 0.708 0.280 13 32394673 intron variant T/C snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs1801166
rs1801166
APC
17 0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 0.010 1.000 1 1998 1998
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.030 1.000 3 1998 2005
dbSNP: rs770292690
rs770292690
TCHP
1 12 109908872 missense variant C/T snv 5.6E-05 9.8E-05 0.010 1.000 1 2016 2016