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: rs10224210
rs10224210
PRKAG2
9 1.000 0.040 7 151716108 intron variant T/C snv 0.21 0.700 1.000 1 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 1 2019 2019
dbSNP: rs1060366
rs1060366
ATP1A1
2 1.000 0.040 1 116384040 synonymous variant A/G snv 1.3E-03 1.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs10757272
rs10757272
CDKN2B-AS1
6 0.851 0.160 9 22088261 intron variant C/T snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs10941191
rs10941191 		3 1.000 0.040 5 34504693 intergenic variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11136000
rs11136000
CLU
19 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs12513649
rs12513649 		6 0.851 0.160 5 173045049 regulatory region variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1264347
rs1264347
LINC00243
4 1.000 0.040 6 30830920 upstream gene variant C/T snv 7.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs12922822
rs12922822
UMOD
5 1.000 0.040 16 20356323 upstream gene variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs13146355
rs13146355
SHROOM3
6 1.000 0.040 4 76490987 intron variant G/A snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs13191445
rs13191445 		4 0.925 0.120 6 26015261 upstream gene variant G/A snv 5.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs145590578
rs145590578
SLC22A2
3 1.000 0.040 6 160236104 intron variant GTT/- delins 9.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs149131600
rs149131600
HPN ; HPN-AS1
2 1.000 0.040 19 35058218 intron variant C/A;T snv 0.10 0.700 1.000 1 2019 2019
dbSNP: rs1556751
rs1556751
PIP5K1B
3 1.000 0.040 9 68818296 intron variant G/A snv 0.63 0.700 1.000 1 2019 2019
dbSNP: rs17137004
rs17137004
FOXP2
2 1.000 0.040 7 114389196 intron variant A/G snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs184003
rs184003
AGER
15 0.724 0.400 6 32182519 intron variant C/A snv 0.12 0.12 0.010 1.000 1 2019 2019
dbSNP: rs1906436
rs1906436
WDR72
3 1.000 0.040 15 53590245 intron variant T/C snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs192902098
rs192902098
PDX1
3 1.000 0.040 13 27920235 missense variant C/A;G;T snv 2.6E-03; 3.4E-04; 5.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs200879349
rs200879349
SLC19A2
3 0.925 0.240 1 169468804 missense variant T/G snv 5.2E-05 6.3E-05 0.010 1.000 1 2019 2019
dbSNP: rs200950799
rs200950799 		3 1.000 0.040 12 17004185 intergenic variant C/T snv 1.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs2023463
rs2023463
OR5V1 ; OR12D3 ; LOC105379641
3 1.000 0.040 6 29445226 intron variant C/T snv 7.6E-02 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: rs2079742
rs2079742
BCAS3
9 0.851 0.240 17 61388336 non coding transcript exon variant T/C snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs2105903
rs2105903 		3 1.000 0.040 6 32427879 intergenic variant A/T snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs2241745
rs2241745
IRS2
4 0.882 0.120 13 109770184 intron variant C/T snv 0.88 0.010 1.000 1 2019 2019