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: rs9894946
rs9894946
TP53
2 0.925 0.160 17 7667762 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs10521296
rs10521296 		1 1.000 0.080 16 53529332 intergenic variant G/A snv 0.15 0.010 1.000 1 2018 2018
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2018 2018
dbSNP: rs1057231
rs1057231
FSTL1 ; LOC100130701
1 1.000 0.080 3 120394556 3 prime UTR variant T/G snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs10830963
rs10830963
MTNR1B
27 0.776 0.400 11 92975544 intron variant C/G snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs10865710
rs10865710
PPARG
13 0.763 0.360 3 12311699 intron variant C/G snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs10946398
rs10946398
CDKAL1
7 0.827 0.160 6 20660803 intron variant A/C snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs11553746
rs11553746
ACP1
2 1.000 0.080 2 272203 missense variant C/T snv 0.31 0.28 0.010 1.000 1 2018 2018
dbSNP: rs11647470
rs11647470 		1 1.000 0.080 16 55157878 intergenic variant C/T snv 0.93 0.010 1.000 1 2018 2018
dbSNP: rs1194197
rs1194197
CD36
2 0.925 0.080 7 80546290 intron variant A/G snv 0.52 0.010 1.000 1 2018 2018
dbSNP: rs11960429
rs11960429
OR2Y1
2 0.925 0.120 5 180739677 missense variant G/A snv 1.2E-02 1.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs1260333
rs1260333 		12 0.882 0.160 2 27525757 downstream gene variant A/G snv 0.58 0.010 1.000 1 2018 2018
dbSNP: rs1378942
rs1378942
CSK
16 0.790 0.240 15 74785026 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1473
rs1473
PUM1
2 0.925 0.120 1 30940072 intron variant G/A snv 6.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs149091795
rs149091795
SH2B1
1 1.000 0.080 16 28866363 missense variant C/A snv 3.3E-04 1.2E-03 0.010 1.000 1 2018 2018
dbSNP: rs150692457
rs150692457
NTRK2
1 1.000 0.080 9 84707904 missense variant G/A;C snv 6.8E-05; 3.5E-04 0.010 1.000 1 2018 2018
dbSNP: rs1550805
rs1550805
PIK3R1
2 0.925 0.120 5 68287979 intron variant C/T snv 6.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs1553403917
rs1553403917
ALMS1
7 0.807 0.320 2 73451171 frameshift variant -/A delins 0.700 1.000 1 2018 2018
dbSNP: rs16998073
rs16998073 		10 0.925 0.120 4 80263187 upstream gene variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs17277372
rs17277372
DNM3
2 0.925 0.120 1 172218334 intron variant A/G snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs17574213
rs17574213
PPARGC1A
1 1.000 0.080 4 23814058 synonymous variant G/A snv 4.9E-02 5.2E-02 0.010 1.000 1 2018 2018
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2018 2018
dbSNP: rs1800592
rs1800592 		8 0.807 0.200 4 140572807 upstream gene variant T/C snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2018 2018
dbSNP: rs1956549
rs1956549
C14orf39
1 1.000 0.080 14 60461483 intron variant G/A snv 0.87 0.82 0.010 1.000 1 2018 2018