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: rs141185224
rs141185224
RET
2 0.925 0.080 10 43114681 missense variant G/A snv 1.1E-04 7.7E-05 0.010 1.000 1 2004 2004
dbSNP: rs539699299
rs539699299
SLC26A4 ; SLC26A4-AS1
4 0.851 0.160 7 107661725 missense variant C/A;G snv 0.010 1.000 1 2006 2006
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2008 2011
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2008 2011
dbSNP: rs370991693
rs370991693
TG ; LOC105375768
4 0.851 0.160 8 133017916 missense variant C/A snv 4.4E-05 2.8E-05 0.020 1.000 2 2008 2009
dbSNP: rs150794546
rs150794546
BRD2
1 1.000 0.040 6 32976655 missense variant G/A snv 4.1E-06 7.0E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs6165
rs6165
FSHR
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.010 < 0.001 1 2008 2008
dbSNP: rs6166
rs6166
FSHR
17 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 0.010 < 0.001 1 2008 2008
dbSNP: rs1143627
rs1143627
IL1B
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2009 2009
dbSNP: rs189261858
rs189261858
TSHR ; LOC101928462
8 0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04 0.010 < 0.001 1 2009 2009
dbSNP: rs371443644
rs371443644
SLC12A3
2 0.925 0.160 16 56865414 missense variant C/T snv 5.6E-05 4.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs771316846
rs771316846
CLCNKB
2 0.925 0.160 1 16045636 missense variant T/C snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
7 0.807 0.280 15 89326678 frameshift variant A/- delins 0.700 1.000 3 2010 2017
dbSNP: rs797044484
rs797044484
TP63
10 0.776 0.400 3 189868624 missense variant C/G snv 0.700 1.000 1 2010 2010
dbSNP: rs7850258
rs7850258
PTCSC2
6 0.827 0.200 9 97786731 intron variant A/G snv 0.72 0.820 1.000 4 2011 2019
dbSNP: rs10759944
rs10759944
PTCSC2
4 0.925 0.080 9 97794690 intron variant A/G snv 0.72 0.710 1.000 3 2011 2014
dbSNP: rs925489
rs925489
PTCSC2
6 0.882 0.080 9 97784318 intron variant C/T snv 0.71 0.800 1.000 2 2011 2012
dbSNP: rs965513
rs965513
PTCSC2
15 0.742 0.200 9 97793827 intron variant A/G;T snv 0.700 1.000 2 2011 2012
dbSNP: rs111033199
rs111033199
SLC26A4
3 0.882 0.160 7 107672245 missense variant G/A;C;T snv 1.8E-04; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.800 1.000 3 2012 2019
dbSNP: rs17020055
rs17020055
VAV3
1 1.000 0.040 1 107793911 intron variant A/C snv 0.11 0.800 1.000 2 2012 2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 2 2012 2019
dbSNP: rs1064191
rs1064191 		1 1.000 0.040 6 31107598 downstream gene variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs10984103
rs10984103 		2 0.925 0.080 9 97876993 TF binding site variant A/C snv 0.68 0.700 1.000 1 2012 2012