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: rs1670661
rs1670661
NELL1
2 1.000 0.040 11 21209124 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs200817352
rs200817352
PAX8 ; PAX8-AS1
2 1.000 0.080 2 113220126 missense variant G/A;C snv 2.0E-03; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs2279398
rs2279398
DOK3
2 1.000 0.080 5 177503768 3 prime UTR variant C/T snv 2.7E-02 0.010 1.000 1 2016 2016
dbSNP: rs28936409
rs28936409
PITX2
2 1.000 0.080 4 110621303 missense variant C/A;G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs373646414
rs373646414
DICER1
2 1.000 0.080 14 95132574 missense variant T/C snv 1.6E-05 5.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs397509039
rs397509039
BRCA1
2 1.000 0.200 17 43092379 missense variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs57408770
rs57408770
IHH ; MIR3131
2 1.000 0.080 2 219058688 non coding transcript exon variant -/AAG delins 0.010 1.000 1 2017 2017
dbSNP: rs587776946
rs587776946
LRIG2
2 1.000 1 113114471 stop gained C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs587781351
rs587781351
CDH1
2 1.000 0.040 16 68828263 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs72478580
rs72478580
PRLR
2 1.000 5 35072610 missense variant T/G snv 1.9E-02 1.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs750949764
rs750949764
FOS
2 1.000 0.040 14 75280958 missense variant G/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs751478142
rs751478142
HSPA9 ; LOC105379193
2 1.000 5 138570994 missense variant G/A snv 2.8E-05 1.4E-05 0.010 < 0.001 1 2015 2015
dbSNP: rs753066745
rs753066745
SH3BGRL
2 X 81277164 missense variant C/T snv 1.7E-05 9.5E-06 0.010 1.000 1 2016 2016
dbSNP: rs760583024
rs760583024
MRGPRX1
2 1.000 0.080 11 18934156 missense variant G/A;T snv 8.0E-06 0.010 < 0.001 1 2018 2018
dbSNP: rs761896295
rs761896295
FGFR3
2 1.000 0.080 4 1804450 missense variant G/A snv 2.4E-05 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs771308693
rs771308693
PTK2
2 8 140752306 missense variant G/A snv 3.2E-05 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs863224682
rs863224682
TP53
2 1.000 0.080 17 7669655 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs866551255
rs866551255
CDKN1A
2 1.000 0.040 6 36684145 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs104893859
rs104893859
PITX2
3 0.925 0.080 4 110618669 missense variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs112295309
rs112295309
SCRIB ; MIR937
3 1.000 0.080 8 143813896 missense variant T/C;G snv 6.1E-04 0.010 1.000 1 2014 2014
dbSNP: rs121909174
rs121909174
SLC5A5
3 0.925 0.120 19 17881961 missense variant A/C snv 1.2E-05 0.010 1.000 1 1998 1998
dbSNP: rs1238981206
rs1238981206
ERBB2 ; MIR4728
3 0.925 0.080 17 39724828 missense variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1259653415
rs1259653415
TFRC
3 1.000 0.080 3 196071416 missense variant T/C snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs17103265
rs17103265
NFKBIA
3 0.925 0.080 14 35405503 upstream gene variant A/- delins 0.010 1.000 1 2011 2011
dbSNP: rs2001389
rs2001389
SUFU
3 0.925 0.120 10 102615501 intron variant G/A;C snv 0.010 1.000 1 2019 2019