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: rs1179469165
rs1179469165
TSHR ; LOC101928462
2 0.925 0.080 14 81143917 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2069566
rs2069566
TG ; LOC105375768
4 0.851 0.160 8 133017940 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs7030280
rs7030280
PTCSC2
2 1.000 0.080 9 97772985 intron variant C/T snv 0.72 0.700 1.000 1 2010 2010
dbSNP: rs1418810723
rs1418810723
FN1
9 0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs776935407
rs776935407
SGSM3
6 0.851 0.080 22 40409261 missense variant T/A snv 4.1E-06 0.010 1.000 1 2011 2011
dbSNP: rs1126667
rs1126667
ALOX12 ; ALOX12-AS1
8 0.776 0.280 17 6999441 missense variant A/G snv 0.60 0.62 0.010 1.000 1 2012 2012
dbSNP: rs17849071
rs17849071
PIK3CA
8 0.776 0.160 3 179218439 intron variant T/G snv 7.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2012 2012
dbSNP: rs3219489
rs3219489
MUTYH
24 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 0.010 1.000 1 2012 2012
dbSNP: rs10759944
rs10759944
PTCSC2
4 0.925 0.080 9 97794690 intron variant A/G snv 0.72 0.700 1.000 3 2009 2013
dbSNP: rs12628
rs12628
HRAS ; LRRC56
10 0.776 0.160 11 534242 synonymous variant A/G snv 0.32 0.34 0.020 1.000 2 2012 2013
dbSNP: rs925487
rs925487 		2 0.925 0.080 9 97874116 regulatory region variant C/A;T snv 0.700 1.000 2 2009 2013
dbSNP: rs966423
rs966423
DIRC3
11 0.776 0.200 2 217445617 intron variant C/G;T snv 0.820 1.000 2 2012 2013
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs12348691
rs12348691
PTCSC2
2 0.925 0.120 9 97846400 intron variant G/A snv 0.63 0.700 1.000 1 2013 2013
dbSNP: rs1248131654
rs1248131654
RBMS1
4 0.851 0.080 2 160367217 missense variant G/A snv 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs1443435
rs1443435
FOXE1
1 1.000 0.080 9 97855301 3 prime UTR variant T/C snv 0.63 0.700 1.000 1 2013 2013
dbSNP: rs1443438
rs1443438
PTCSC2
8 0.827 0.080 9 97787746 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs2227869
rs2227869
ERCC5 ; BIVM-ERCC5
9 0.790 0.240 13 102862735 missense variant G/A;C snv 4.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs6759952
rs6759952
DIRC3
2 1.000 0.080 2 217406996 intron variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs7848973
rs7848973
PTCSC2
2 0.925 0.080 9 97826557 intron variant A/G snv 0.67 0.700 1.000 1 2013 2013
dbSNP: rs7866436
rs7866436 		2 0.925 0.080 9 97887814 intergenic variant G/A snv 0.70 0.700 1.000 1 2013 2013
dbSNP: rs71369530
rs71369530
FOXE1 ; PTCSC2
4 0.851 0.080 9 97854419 inframe insertion GCCGCCGCCGCCGCCGCCGCCGCC/-;GCC;GCCGCC;GCCGCCGCC;GCCGCCGCCGCC;GCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC delins 0.68 0.020 1.000 2 2014 2014
dbSNP: rs12508721
rs12508721
IL21-AS1
11 0.742 0.360 4 122623509 intron variant C/T snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs1297812518
rs1297812518
KLC1 ; XRCC3 ; LOC112268131
9 0.763 0.160 14 103707168 missense variant G/A snv 1.3E-05 1.4E-05 0.010 < 0.001 1 2014 2014