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: rs1557644984
rs1557644984
SLC2A1
5 0.925 0.080 1 42927622 missense variant A/G snv 0.700 0
dbSNP: rs1557714302
rs1557714302
PPT1
3 0.925 0.120 1 40092486 stop gained A/C snv 0.700 0
dbSNP: rs1557781252
rs1557781252
GATAD2B
33 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
dbSNP: rs192669225
rs192669225
AMPD2
3 0.925 0.040 1 109628692 missense variant G/A snv 0.700 0
dbSNP: rs397518423
rs397518423
PIK3CD
10 0.790 0.240 1 9726972 missense variant G/A snv 0.700 0
dbSNP: rs561330579
rs561330579
CELSR2
2 1.000 1 109258951 missense variant C/G;T snv 7.3E-05 0.700 0
dbSNP: rs571640983
rs571640983
MFSD2A
4 0.925 1 39967913 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs587776935
rs587776935
AKT3
7 0.827 0.120 1 243505296 missense variant G/A snv 0.700 0
dbSNP: rs61751035
rs61751035
RPS6KC1
6 0.882 0.160 1 213242186 missense variant G/A snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
dbSNP: rs730882203
rs730882203
DMBX1
6 0.851 0.080 1 46510953 missense variant C/T snv 0.700 0
dbSNP: rs730882223
rs730882223
TSEN15
4 0.851 0.120 1 184054736 missense variant T/G snv 0.700 0
dbSNP: rs746200792
rs746200792
SZT2
8 0.925 0.120 1 43437254 inframe deletion TGT/- delins 0.700 0
dbSNP: rs747506979
rs747506979
GBA
4 0.882 0.160 1 155235003 missense variant G/A snv 1.2E-05 0.700 0
dbSNP: rs756421370
rs756421370
MECR
8 0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 0.700 0
dbSNP: rs757511770
rs757511770
FMN2
9 0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs765379963
rs765379963
TMCO1
19 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs794727774
rs794727774
FUCA1
11 0.827 0.240 1 23848684 stop gained C/T snv 0.700 0
dbSNP: rs1064795104
rs1064795104
EXOC6B
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs1310897090
rs1310897090
NBAS
2 1.000 2 15467394 stop gained G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1447313633
rs1447313633
ZNF142
4 1.000 2 218649090 frameshift variant TT/- del 0.700 1.000 1 2019 2019
dbSNP: rs145999922
rs145999922
SLC19A3
5 0.882 0.040 2 227699378 missense variant A/G snv 4.4E-05 4.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs1559296368
rs1559296368
ZNF142
4 1.000 2 218646330 frameshift variant C/- del 0.700 1.000 1 2019 2019
dbSNP: rs369634007
rs369634007
TMEM87B
10 0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs527656756
rs527656756
HAAO ; MTA3
21 0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05 0.700 1.000 1 2017 2017