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: rs2496720
rs2496720
PARD3
1 10 34606401 intron variant T/C snv 0.10 0.010 1.000 1 2012 2012
dbSNP: rs2544390
rs2544390
LRP2
4 0.925 0.080 2 169348336 intron variant C/T snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs2855658
rs2855658
CYP1B1 ; RMDN2
2 2 38069747 3 prime UTR variant T/C snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs3755166
rs3755166
LRP2
4 1.000 0.080 2 169363371 upstream gene variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs3814573
rs3814573
TCF7L2
2 1.000 0.080 10 113138334 intron variant T/C snv 0.71 0.010 1.000 1 2012 2012
dbSNP: rs452159
rs452159
ADA
2 1.000 0.040 20 44642461 intron variant G/T snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs4646733
rs4646733
ALDH1L1
1 3 126131258 intron variant C/T snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs4795436
rs4795436
SARM1 ; SLC46A1
1 17 28402410 3 prime UTR variant C/T snv 0.92 0.010 1.000 1 2016 2016
dbSNP: rs4988235
rs4988235
MCM6
19 0.752 0.400 2 135851076 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs5015480
rs5015480 		9 0.851 0.120 10 92705802 downstream gene variant C/T snv 0.42 0.010 1.000 1 2015 2015
dbSNP: rs502396
rs502396
TYMS ; TYMSOS
2 1.000 0.080 18 659236 intron variant C/T snv 0.46 0.010 1.000 1 2012 2012
dbSNP: rs56811449
rs56811449
MTHFD1
1 14 64417358 intron variant C/T snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs594631
rs594631
PRKACB ; LOC107985046
1 1 84220882 intron variant A/T snv 0.31 0.010 1.000 1 2013 2013
dbSNP: rs651646
rs651646
FOLR2
1 11 72218482 intron variant T/A snv 0.52 0.010 < 0.001 1 2003 2003
dbSNP: rs6573559
rs6573559
MTHFD1 ; ZBTB25
1 14 64456448 intron variant G/T snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs7169289
rs7169289 		2 1.000 0.040 15 57951485 downstream gene variant G/A snv 0.83 0.010 1.000 1 2014 2014
dbSNP: rs7646
rs7646
MTHFD1L ; MIR12131
1 6 151101614 3 prime UTR variant A/G;T snv 0.22 0.010 1.000 1 2014 2014
dbSNP: rs771174392
rs771174392
DNMT3A
3 0.925 0.200 2 25235779 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs780094
rs780094
GCKR
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.010 1.000 1 2015 2015
dbSNP: rs8050136
rs8050136
FTO
32 0.716 0.560 16 53782363 intron variant C/A snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs906049409
rs906049409
GLDC
1 9 6550898 missense variant C/T snv 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs9282861
rs9282861
SULT1A1
31 0.658 0.440 16 28606193 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs34059106
rs34059106
VANGL1
1 1 115684037 missense variant A/C;G snv 4.0E-03; 4.0E-06 1.7E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.882 68 1997 2019