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: rs2279463
rs2279463
SLC22A2
4 1.000 0.080 6 160247357 intron variant A/G;T snv 0.700 1.000 4 2010 2019
dbSNP: rs881858
rs881858
LOC105375069 ; LOC107986598
7 0.882 0.200 6 43838872 intron variant G/A;C snv 0.700 1.000 3 2010 2018
dbSNP: rs1394125
rs1394125
UBE2Q2
7 0.882 0.200 15 75866642 intron variant G/A;T snv 0.700 1.000 2 2010 2016
dbSNP: rs2467853
rs2467853
SPATA5L1
4 1.000 0.080 15 45406595 intron variant T/A;G snv 0.700 1.000 2 2016 2019
dbSNP: rs4744712
rs4744712
PIP5K1B
4 1.000 0.080 9 68819791 intron variant A/C;T snv 0.700 1.000 2 2010 2016
dbSNP: rs7422339
rs7422339
CPS1
5 1.000 0.080 2 210675783 missense variant C/A snv 0.700 1.000 2 2010 2016
dbSNP: rs10206899
rs10206899
ALMS1P1
3 2 73673773 intron variant T/C;G snv 0.21; 3.9E-05 0.700 1.000 1 2010 2010
dbSNP: rs10518732
rs10518732
WDR72
2 15 53646845 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs10518733
rs10518733
WDR72
1 15 53648110 intron variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs10794486
rs10794486
IGF1R
1 15 98758306 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10840341
rs10840341 		2 11 2095263 intergenic variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs11123169
rs11123169
PSD4
3 1.000 0.080 2 113209498 upstream gene variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11180732
rs11180732
LOC105369844
2 12 75889574 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs112029703
rs112029703
PTPN12
2 7 77609361 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs115151282
rs115151282
HLA-DQA1
1 6 32632634 intron variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs11543349
rs11543349
OGFR
2 20 62813587 missense variant G/C;T snv 9.8E-02; 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs11554266
rs11554266
GNAS
4 1.000 0.040 20 58903791 splice region variant C/G;T snv 4.0E-06; 2.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs11655024
rs11655024
BCAS3
2 17 61155004 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs12458009
rs12458009 		2 18 61683274 intron variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs141310123
rs141310123
NFATC1
4 0.925 0.120 18 79411390 missense variant C/A;T snv 2.1E-04; 4.8E-06 0.700 1.000 1 2018 2018
dbSNP: rs143193096
rs143193096
IGF1R
3 15 98916098 missense variant G/A;C snv 8.4E-05; 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs148240484
rs148240484
DPEP1
3 1.000 0.080 16 89637333 missense variant G/A;C;T snv 5.3E-04; 3.9E-04; 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs149437411
rs149437411
LPP
2 3 188609231 missense variant C/G;T snv 4.0E-06; 1.9E-03 0.700 1.000 1 2018 2018
dbSNP: rs149454410
rs149454410
SLC2A9
5 0.925 0.120 4 9942000 missense variant C/G;T snv 4.0E-05; 3.2E-04 0.700 1.000 1 2018 2018
dbSNP: rs164748
rs164748
DPEP1
2 16 89641884 downstream gene variant C/G;T snv 0.700 1.000 1 2016 2016