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: rs1085308039
rs1085308039
PTEN
6 0.925 0.080 10 87933075 stop gained G/T snv 0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs10226620
rs10226620
MAFK ; TMEM184A
4 1.000 0.040 7 1541881 3 prime UTR variant T/C snv 0.69 0.010 1.000 1 2017 2017
dbSNP: rs10969913
rs10969913 		3 1.000 0.080 9 30866810 intergenic variant A/G snv 6.3E-02 0.010 1.000 1 2020 2020
dbSNP: rs11122573
rs11122573 		3 1.000 0.080 1 230701434 upstream gene variant C/T snv 8.0E-02 0.010 1.000 1 2020 2020
dbSNP: rs121913365
rs121913365
BRAF
10 0.776 0.320 7 140753332 missense variant T/A;G snv 0.010 1.000 1 2004 2004
dbSNP: rs121913371
rs121913371
BRAF
3 1.000 0.040 7 140781678 missense variant G/A;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs17055178
rs17055178 		3 1.000 0.080 5 157976402 downstream gene variant A/G snv 7.2E-02 0.010 1.000 1 2020 2020
dbSNP: rs17630638
rs17630638 		1 11 93062046 intergenic variant C/T snv 0.22 0.010 1.000 1 2013 2013
dbSNP: rs3735656
rs3735656
MAFK
5 1.000 0.040 7 1541285 3 prime UTR variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs7120482
rs7120482 		1 11 93058934 regulatory region variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2008 2008