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: rs1636744
rs1636744
AHR
4 0.851 0.080 7 16944656 intron variant C/T snv 0.31 0.700 1.000 2 2015 2018
dbSNP: rs1805006
rs1805006
MC1R
8 0.790 0.080 16 89919510 missense variant C/A;G snv 5.2E-03; 4.0E-06 0.020 1.000 2 2001 2008
dbSNP: rs267599211
rs267599211
CNOT9
3 0.882 0.080 2 218584683 missense variant C/T snv 0.710 1.000 2 2015 2016
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: rs10492396
rs10492396
BRCA2
2 0.925 0.080 13 32384750 non coding transcript exon variant G/A snv 4.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs1057519880
rs1057519880
IRF3 ; BCL2L12
2 0.925 0.080 19 49665875 missense variant C/T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519885
rs1057519885
CFAP61 ; CRNKL1
2 0.925 0.080 20 20052443 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519955
rs1057519955
CNOT9
1 1.000 0.080 2 218584682 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs10739221
rs10739221
LINC01505
5 0.851 0.080 9 106298549 intron variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs10813813
rs10813813
ACO1
1 1.000 0.080 9 32422404 intron variant A/T snv 0.34 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: rs10830253
rs10830253
TYR
4 0.851 0.080 11 89294875 intron variant T/G snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs1148732
rs1148732
GPRC5A ; MIR614
3 0.882 0.080 12 12915357 3 prime UTR variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs11532907
rs11532907
MTAP
3 0.882 0.080 9 21844773 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs117648907
rs117648907
FMN1
3 0.882 0.080 15 32985509 intron variant C/T snv 1.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs12596638
rs12596638
FTO
3 0.882 0.080 16 54081917 intron variant G/A snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs13006529
rs13006529
CASP10
7 0.851 0.080 2 201217736 missense variant T/A snv 0.41 0.42 0.010 1.000 1 2008 2008
dbSNP: rs137854599
rs137854599
CDKN2A
4 0.882 0.080 9 21971093 missense variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1484375
rs1484375
LINC01505
3 0.882 0.080 9 106305280 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1640875
rs1640875
GPRC5A
3 0.882 0.080 12 12916590 3 prime UTR variant A/T snv 0.49 0.700 1.000 1 2018 2018
dbSNP: rs17288067
rs17288067
ACO1
1 1.000 0.080 9 32409048 intron variant G/A snv 0.14 0.010 1.000 1 2010 2010
dbSNP: rs184628474
rs184628474
TTC7B
3 0.882 0.080 14 90719521 intron variant G/A snv 2.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs186133190
rs186133190
WDPCP
3 0.882 0.080 2 63550724 intron variant T/C snv 4.9E-04 0.700 1.000 1 2015 2015
dbSNP: rs1990330
rs1990330
TEAD4
2 0.925 0.080 12 3038296 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2005974
rs2005974
PLA2G6
3 0.882 0.080 22 38141105 non coding transcript exon variant G/A snv 0.49 0.700 1.000 1 2018 2018