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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 0.667 3 2014 2015
dbSNP: rs1588635
rs1588635
PTCSC2
2 1.000 0.080 9 97775520 intron variant A/C snv 0.72 0.800 1.000 2 2010 2017
dbSNP: rs10951937
rs10951937
SUN3
3 0.882 0.080 7 47992027 intron variant A/C snv 0.43 0.010 1.000 1 2018 2018
dbSNP: rs10984103
rs10984103 		2 0.925 0.080 9 97876993 TF binding site variant A/C snv 0.68 0.700 1.000 1 2009 2009
dbSNP: rs1566734
rs1566734
PTPRJ
10 0.807 0.120 11 48123823 missense variant A/C snv 0.17 0.15 0.010 1.000 1 2004 2004
dbSNP: rs1946519
rs1946519
IL18
4 0.851 0.120 11 112164784 intron variant A/C snv 0.60 0.010 1.000 1 2015 2015
dbSNP: rs360718
rs360718
IL18
5 0.827 0.120 11 112164016 5 prime UTR variant A/C snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.020 1.000 2 2004 2015
dbSNP: rs1800858
rs1800858
RET
4 0.851 0.160 10 43100520 synonymous variant A/C;G snv 0.73 0.010 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.980 98 2004 2019
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs121913308
rs121913308
RET
6 0.827 0.120 10 43114492 missense variant A/C;G;T snv 0.700 0
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1867277
rs1867277
FOXE1 ; PTCSC2
10 0.776 0.160 9 97853632 5 prime UTR variant A/G snv 0.63 0.750 1.000 6 2009 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2014 2018
dbSNP: rs10759944
rs10759944
PTCSC2
4 0.925 0.080 9 97794690 intron variant A/G snv 0.72 0.700 1.000 3 2009 2013
dbSNP: rs7850258
rs7850258
PTCSC2
6 0.827 0.200 9 97786731 intron variant A/G snv 0.72 0.710 1.000 3 2010 2015
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.020 1.000 2 2012 2018
dbSNP: rs12628
rs12628
HRAS ; LRRC56
10 0.776 0.160 11 534242 synonymous variant A/G snv 0.32 0.34 0.020 1.000 2 2012 2013
dbSNP: rs1032006770
rs1032006770
EGFR
3 0.882 0.080 7 55160171 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs11214077
rs11214077
SDHD ; TIMM8B
12 0.752 0.120 11 112087953 missense variant A/G snv 6.6E-03 6.7E-03 0.010 1.000 1 2017 2017
dbSNP: rs1126667
rs1126667
ALOX12 ; ALOX12-AS1
8 0.776 0.280 17 6999441 missense variant A/G snv 0.60 0.62 0.010 1.000 1 2012 2012
dbSNP: rs1169803481
rs1169803481
EGFR
7 0.807 0.160 7 55198851 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs12129938
rs12129938
PCNX2
1 1.000 0.080 1 233276815 intron variant A/G snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs145475805
rs145475805
TG
4 0.882 0.080 8 132887509 missense variant A/G snv 8.8E-05 3.3E-04 0.010 1.000 1 2009 2009