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: rs28372851
rs28372851
ERLIN1
1 1.000 0.080 10 100186276 upstream gene variant G/A snv 7.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs12765052
rs12765052
PKD2L1
1 1.000 0.080 10 100289222 intron variant G/T snv 7.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs185815317
rs185815317
IL1RL2
1 1.000 0.080 2 102241279 downstream gene variant G/T snv 1.0E-03 0.700 1.000 1 2018 2018
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 2012 2012
dbSNP: rs141752671
rs141752671 		17 0.708 0.280 11 103745837 intron variant A/G snv 5.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs148883465
rs148883465 		17 0.708 0.280 11 103813371 intron variant A/G snv 7.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs7679673
rs7679673 		28 0.677 0.440 4 105140377 intron variant C/A snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs140781040
rs140781040
FAM155A
1 1.000 0.080 13 107661103 intron variant C/T snv 4.8E-03 0.700 1.000 1 2018 2018
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs121918465
rs121918465
PTPN11
7 0.827 0.200 12 112450407 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs397507546
rs397507546
PTPN11
9 0.790 0.360 12 112489084 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520039
rs1057520039
STK11
4 0.882 0.200 19 1207169 stop gained C/G;T snv 0.700 1.000 1 2007 2007
dbSNP: rs1057519791
rs1057519791
FGFR2
1 1.000 0.080 10 121518810 missense variant G/C snv 0.700 1.000 1 2013 2013
dbSNP: rs121918499
rs121918499
FGFR2
2 0.925 0.160 10 121520048 missense variant C/A;G snv 0.700 1.000 1 2013 2013
dbSNP: rs11200014
rs11200014
FGFR2
19 0.695 0.280 10 121575416 intron variant G/A;T snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs764449808
rs764449808
STK11
1 1.000 0.080 19 1218494 missense variant A/G snv 1.2E-05 3.5E-05 0.700 1.000 1 2007 2007
dbSNP: rs730881972
rs730881972
STK11
2 1.000 0.080 19 1220395 missense variant G/C;T snv 0.700 1.000 1 2007 2007
dbSNP: rs6488507
rs6488507
LRP6 ; BCL2L14
2 0.925 0.080 12 12203966 intron variant A/G snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs4573350
rs4573350
LHX6 ; MORN5
1 1.000 0.080 9 122192836 intron variant T/C snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs10845498
rs10845498
LRP6
2 0.925 0.080 12 12241640 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs763733111
rs763733111
PPP6C
2 0.925 0.120 9 125149801 missense variant G/A snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs10118570
rs10118570 		2 0.925 0.120 9 125714185 intergenic variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs710886
rs710886
PCAT1 ; LOC105375751
9 0.763 0.160 8 127014615 intron variant C/T snv 0.37 0.010 1.000 1 2019 2019