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: rs1997606
rs1997606
N6AMT1
1 21 28885238 synonymous variant C/A;G snv 0.84 0.700 1.000 1 2019 2019
dbSNP: rs883541
rs883541
PRKAR1A ; WIPI1
1 17 68452981 missense variant G/A snv 0.74 0.78 0.700 1.000 1 2019 2019
dbSNP: rs4886696
rs4886696
SIN3A
1 15 75372229 intron variant A/C;T snv 1.0E-05; 0.70 0.700 1.000 1 2019 2019
dbSNP: rs1051447
rs1051447
CWH43
1 4 49061855 missense variant C/A snv 0.65 0.58 0.700 1.000 1 2019 2019
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.800 1.000 6 2013 2019
dbSNP: rs848486
rs848486
PHTF2
1 7 77922810 missense variant G/A;T snv 0.61 0.700 1.000 2 2016 2019
dbSNP: rs4664475
rs4664475
NEB ; RIF1
1 2 151531039 synonymous variant T/C snv 0.59 0.55 0.700 1.000 1 2019 2019
dbSNP: rs2236521
rs2236521
LAMA5
1 20 62317060 intron variant G/A snv 0.54 0.44 0.700 1.000 1 2019 2019
dbSNP: rs2047866
rs2047866
UBE2Q2
3 1.000 0.040 15 75843853 splice region variant C/T snv 0.54 0.43 0.700 1.000 1 2019 2019
dbSNP: rs4886755
rs4886755
NRG4
6 0.925 0.120 15 76005791 non coding transcript exon variant A/G;T snv 0.49 0.700 1.000 1 2019 2019
dbSNP: rs2291652
rs2291652
MUC4
1 3 195750920 synonymous variant G/A snv 0.44 0.36 0.700 1.000 1 2019 2019
dbSNP: rs281386
rs281386
MAMSTR
1 19 48714048 splice region variant A/G snv 0.44 0.38 0.700 1.000 1 2019 2019
dbSNP: rs11261022
rs11261022
KLHDC7A
1 1 18481459 missense variant C/A snv 0.34 0.33 0.700 1.000 1 2019 2019
dbSNP: rs3795503
rs3795503
KIAA1614 ; LOC107985231
3 1 180936558 synonymous variant C/T snv 0.31 0.27 0.700 1.000 2 2019 2019
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 5 2017 2019
dbSNP: rs41301394
rs41301394
POR
2 7 75983485 non coding transcript exon variant C/T snv 0.30 0.26 0.700 1.000 2 2019 2019
dbSNP: rs2732481
rs2732481
ZNF641
1 12 48343202 missense variant T/A;G snv 4.0E-06; 0.28 0.700 1.000 1 2019 2019
dbSNP: rs2074204
rs2074204
MTMR3
1 22 30008007 synonymous variant C/T snv 0.27 0.32 0.700 1.000 1 2019 2019
dbSNP: rs6546838
rs6546838
ALMS1
2 2 73452153 missense variant A/G snv 0.27 0.40 0.700 1.000 1 2016 2016
dbSNP: rs17730281
rs17730281
WDR72
3 1.000 0.080 15 53615751 missense variant G/A snv 0.26 0.22 0.700 1.000 1 2019 2019
dbSNP: rs3812036
rs3812036
SLC34A1
5 0.925 0.120 5 177386403 intron variant C/T snv 0.23 0.20 0.700 1.000 4 2017 2019
dbSNP: rs13538
rs13538
NAT8 ; ALMS1P1
5 1.000 0.080 2 73641201 missense variant A/G snv 0.21 0.31 0.800 1.000 2 2013 2016
dbSNP: rs10206899
rs10206899
ALMS1P1
3 2 73673773 intron variant T/C;G snv 0.21; 3.9E-05 0.800 1.000 1 2013 2013
dbSNP: rs284859
rs284859
WBP1L
1 10 102813260 missense variant G/A;T snv 8.1E-06; 0.20 0.700 1.000 1 2019 2019
dbSNP: rs1136201
rs1136201
ERBB2
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.700 1.000 1 2019 2019