Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs4745021
rs4745021
TRPM3
1.000 0.080 9 70652691 intron variant T/A;G snv
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		0.700 1.000 1 2018 2018
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		0.700 0
dbSNP: rs121909219
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		0.700 0
dbSNP: rs121909224
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		0.700 0
dbSNP: rs121909231
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		0.700 0
dbSNP: rs786204858
rs786204858
PTEN
0.776 0.280 10 87933079 missense variant A/G;T snv
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		0.700 0
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		0.100 0.950 40 2006 2020
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		0.100 0.947 38 2006 2020
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		0.010 1.000 1 2006 2006
dbSNP: rs1179469165
rs1179469165
TSHR ; LOC101928462
0.925 0.080 14 81143917 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		0.010 1.000 1 2006 2006
dbSNP: rs121913364
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		0.010 1.000 1 2016 2016
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		0.010 1.000 1 2006 2006
dbSNP: rs1432155504
rs1432155504
GGT2
1.000 0.080 22 21225543 missense variant C/G snv
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		0.010 1.000 1 2006 2006
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		0.010 1.000 1 2009 2009
dbSNP: rs1800472
rs1800472
TGFB1
0.752 0.360 19 41341955 missense variant G/A snv 2.6E-02 2.3E-02
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		0.010 1.000 1 2009 2009
dbSNP: rs1800862
rs1800862
RET
0.925 0.160 10 43119646 synonymous variant C/T snv 4.5E-02 3.9E-02
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		0.010 1.000 1 2009 2009
dbSNP: rs712
rs712
KRAS
0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		0.010 1.000 1 2019 2019