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: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 26 2003 2020
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 24 2003 2020
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.070 1.000 7 2010 2019
dbSNP: rs1805007
rs1805007
MC1R
25 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.030 1.000 3 2009 2019
dbSNP: rs1805008
rs1805008
MC1R
16 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.030 1.000 3 2000 2019
dbSNP: rs2153977
rs2153977
MAGI3
6 0.807 0.240 1 113537449 intron variant C/T snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs2234663
rs2234663
IL1RN
14 0.716 0.480 2 113130529 intron variant ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC delins 0.010 1.000 1 2019 2019
dbSNP: rs3200401
rs3200401
MALAT1 ; MASCRNA ; TALAM1
11 0.742 0.320 11 65504361 splice region variant C/T snv 0.17 0.17 0.010 1.000 1 2019 2019
dbSNP: rs619586
rs619586
MALAT1
15 0.724 0.360 11 65498698 non coding transcript exon variant A/G snv 5.9E-02 3.3E-02 0.010 1.000 1 2019 2019
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: rs12696304
rs12696304 		10 0.776 0.320 3 169763483 downstream gene variant C/G snv 0.38 0.700 1.000 2 2015 2018
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: rs1805009
rs1805009
MC1R ; TUBB3
9 0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03 0.020 1.000 2 2000 2018
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: 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: rs132985
rs132985
PLA2G6
5 0.827 0.120 22 38167464 intron variant C/T snv 0.51 0.700 1.000 1 2018 2018
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: 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: 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