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: rs4670813
rs4670813
CYP1B1 ; CYP1B1-AS1
3 0.882 0.080 2 38090568 intron variant G/A snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs4731207
rs4731207
GPR37
3 0.882 0.080 7 124756591 intron variant G/A snv 0.47 0.700 1.000 1 2015 2015
dbSNP: rs4731742
rs4731742
LINC-PINT
3 0.882 0.080 7 131070053 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs4778138
rs4778138
OCA2
6 0.851 0.080 15 28090674 intron variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs55875066
rs55875066
HDAC4
3 0.882 0.080 2 239154306 intron variant C/T snv 6.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs56238684
rs56238684
PIGU
4 0.882 0.080 20 34648892 intron variant G/C snv 4.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs600951
rs600951
DOCK8
3 0.882 0.080 9 224742 intron variant A/G snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs62068372
rs62068372
VPS9D1 ; ZNF276
2 0.925 0.080 16 89718699 intron variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs6750047
rs6750047
RMDN2
4 0.851 0.080 2 38049406 intron variant A/G snv 0.61 0.700 1.000 1 2015 2015
dbSNP: rs6914598
rs6914598
CDKAL1
4 0.851 0.080 6 21163688 intron variant T/C snv 0.38 0.700 1.000 1 2015 2015
dbSNP: rs72704658
rs72704658
ARNT
3 0.882 0.080 1 150860534 intron variant T/C snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs73008229
rs73008229
ATM ; C11orf65
3 0.882 0.080 11 108316962 intron variant G/A snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs75570604
rs75570604
FANCA
4 0.851 0.080 16 89780269 intron variant G/C snv 4.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs7944031
rs7944031
TEAD1
2 0.925 0.080 11 12907573 intron variant A/G snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs869329
rs869329
MTAP
4 0.851 0.080 9 21804694 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs869330
rs869330
MTAP
2 0.925 0.080 9 21804618 intron variant A/G snv 0.62 0.010 1.000 1 2019 2019
dbSNP: rs910873
rs910873
PIGU
3 0.882 0.160 20 34583968 intron variant G/A;C snv 0.010 < 0.001 1 2009 2009
dbSNP: rs498136
rs498136 		4 0.851 0.080 11 69552350 intergenic variant A/C snv 0.68 0.700 1.000 2 2015 2018
dbSNP: rs12512631
rs12512631 		3 0.882 0.200 4 71735614 intergenic variant T/C snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs7041168
rs7041168 		3 0.882 0.080 9 107936435 intergenic variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs7855483
rs7855483 		1 1.000 0.080 9 32372464 intergenic variant C/T snv 0.79 0.010 1.000 1 2010 2010
dbSNP: rs10816595
rs10816595 		4 0.851 0.080 9 107947454 regulatory region variant A/G snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 0.667 3 2013 2015
dbSNP: rs121909224
rs121909224
PTEN
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 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