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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs192481803
rs192481803 		1 1.000 0.080 2 35111498 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11715549
rs11715549
LPP
1 1.000 0.080 3 188370330 intron variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs17247181
rs17247181
ERBIN
1 1.000 0.080 5 65959844 intron variant C/T snv 6.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs35407
rs35407
SLC45A2
6 0.807 0.080 5 33946466 3 prime UTR variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1059572
rs1059572
HLA-DRB1
1 1.000 0.080 6 32584314 missense variant G/A;C;T snv 1.1E-02; 1.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.700 1.000 1 2016 2016
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2016 2016
dbSNP: rs267600971
rs267600971
CYP21A2 ; DXO ; STK19
3 0.882 0.080 6 31972346 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs28535317
rs28535317 		1 1.000 0.080 6 32621288 regulatory region variant A/G snv 7.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs833061
rs833061
VEGFA
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs9689649
rs9689649
PRKN
1 1.000 0.080 6 161680146 intron variant A/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519874
rs1057519874
RAC1
9 0.807 0.120 7 6387261 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519948
rs1057519948
RAC1
4 0.851 0.120 7 6387262 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs117132860
rs117132860
AHR
1 1.000 0.080 7 17095084 intron variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913357
rs121913357
BRAF
12 0.742 0.320 7 140781603 stop gained C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2016 2016
dbSNP: rs1416033282
rs1416033282
SEM1 ; LOC105375411
1 1.000 0.080 7 96486287 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs199816436
rs199816436
TRPS1
1 1.000 0.080 8 115565487 intron variant TTTTTTT/-;T;TT;TTTTTT;TTTTTTTT delins 2.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs9643297
rs9643297
ST3GAL1
1 1.000 0.080 8 133471452 intron variant A/G snv 0.42 0.010 1.000 1 2016 2016
dbSNP: rs104894104
rs104894104
CDKN2A
7 0.790 0.160 9 21971019 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519881
rs1057519881
CDKN2A
8 0.776 0.240 9 21971111 missense variant T/C snv 0.700 1.000 1 2016 2016