Source: BEFREE ×
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: rs7850258
rs7850258
PTCSC2
5 0.827 0.200 9 97786731 intron variant A/G snv 0.72 0.820 1.000 2 2011 2019
dbSNP: rs10759944
rs10759944
PTCSC2
1 0.925 0.080 9 97794690 intron variant A/G snv 0.72 0.710 1.000 1 2011 2014
dbSNP: rs225014
rs225014
DIO2
21 0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39 0.050 1.000 5 2013 2019
dbSNP: rs113488022
rs113488022
BRAF
484 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
3 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: rs111033199
rs111033199
SLC26A4
2 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: rs1126797
rs1126797
TPO
1 1.000 0.040 2 1494031 missense variant C/A;G;T snv 0.37 0.010 1.000 1 2014 2014
dbSNP: rs1143627
rs1143627
IL1B
45 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2009 2009
dbSNP: rs11611206
rs11611206
MDM1 ; LOC105369818
4 0.851 0.200 12 68274666 intron variant G/A snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs121908862
rs121908862
TSHR ; LOC101928462
1 0.925 0.120 14 81092563 missense variant T/A snv 0.010 1.000 1 1996 1996
dbSNP: rs121908866
rs121908866
TSHR ; LOC101928462
2 0.882 0.120 14 81143695 stop gained G/A snv 1.1E-04 2.0E-04 0.010 1.000 1 2003 2003
dbSNP: rs1237473071
rs1237473071
TSHR ; LOC101928462
2 0.925 0.040 14 81143791 missense variant T/C snv 7.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs12492609
rs12492609
TMEM39A
3 0.882 0.040 3 119435715 intron variant C/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs13306186
rs13306186
APOBR
1 1.000 0.040 16 28496924 missense variant C/G;T snv 1.7E-03; 5.3E-05 0.010 1.000 1 2018 2018
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: rs148383040
rs148383040
SLC8A1 ; SLC8A1-AS1
1 1.000 0.040 2 40170319 missense variant C/G;T snv 4.8E-05; 4.0E-06 0.010 1.000 1 2018 2018
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: rs17606253
rs17606253
SLC16A10
1 1.000 0.040 6 111205242 intron variant T/C snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
230 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: 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: rs200842352
rs200842352
FASN
1 1.000 0.040 17 82079563 missense variant C/A snv 6.2E-04 1.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs2076738
rs2076738
TG
5 0.807 0.200 8 132906843 missense variant T/C snv 1.6E-05 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs2277923
rs2277923
NKX2-5
13 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.010 1.000 1 2017 2017
dbSNP: rs28936670
rs28936670
NKX2-5
12 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.010 1.000 1 2017 2017