Source: CURATED ×
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: rs17879961
rs17879961
CHEK2
15 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.700 1.000 1 2014 2014
dbSNP: rs35407
rs35407
SLC45A2
6 0.807 0.080 5 33946466 3 prime UTR variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs6503659
rs6503659 		2 1.000 0.040 17 41741012 intergenic variant A/C;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10455872
rs10455872
LPA
12 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs11707807
rs11707807
LPP
1 1.000 0.040 3 188370473 intron variant A/G snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs12296850
rs12296850 		2 0.925 0.080 12 100426307 downstream gene variant A/G snv 8.7E-02 0.710 1.000 1 2013 2013
dbSNP: rs2075650
rs2075650
TOMM40
25 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.700 1.000 1 2012 2012
dbSNP: rs2847281
rs2847281
PTPN2
3 1.000 0.040 18 12821594 intron variant A/G snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs3846662
rs3846662
HMGCR
5 0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58 0.700 1.000 1 2012 2012
dbSNP: rs4803750
rs4803750
BCL3
22 0.807 0.240 19 44744370 upstream gene variant A/G snv 7.7E-02 0.700 1.000 1 2012 2012
dbSNP: rs6059655
rs6059655
RALY
10 0.790 0.080 20 34077942 intron variant A/G snv 0.95 0.700 1.000 1 2016 2016
dbSNP: rs6743068
rs6743068
FLACC1
1 1.000 0.040 2 201289197 intron variant A/G snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs121913082
rs121913082
FAS
2 1.000 0.040 10 89014205 missense variant A/G snv 0.700 0
dbSNP: rs121913083
rs121913083
FAS
2 1.000 0.040 10 89008907 missense variant A/G snv 0.700 0
dbSNP: rs11571833
rs11571833
BRCA2
21 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.720 1.000 1 2014 2018
dbSNP: rs8063761
rs8063761
DEF8
1 1.000 0.040 16 89961218 intron variant A/T snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs17761864
rs17761864
SMG6
2 1.000 0.040 17 2268343 intron variant C/A snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs16891982
rs16891982
SLC45A2
9 0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 0.710 1.000 1 2009 2016
dbSNP: rs6413464
rs6413464
CDKN2A
1 1.000 0.040 9 21970980 missense variant C/A;G snv 1.3E-03; 4.1E-06 0.700 0
dbSNP: rs1805007
rs1805007
MC1R
16 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs201125580
rs201125580
PTCH1 ; LOC100507346
1 1.000 0.040 9 95467191 missense variant C/A;T snv 4.0E-06; 3.8E-04 0.700 0
dbSNP: rs12203592
rs12203592
IRF4
23 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.710 1.000 2 2011 2019
dbSNP: rs1246946
rs1246946 		4 0.851 0.040 6 4979722 downstream gene variant C/T snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs12916300
rs12916300
HERC2
13 0.742 0.080 15 28165345 intron variant C/T snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs13301660
rs13301660
SEC16A
1 1.000 0.040 9 136446350 intron variant C/T snv 0.20 0.700 1.000 1 2019 2019