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: rs104894110
rs104894110
FOXE1 ; PTCSC2
0.776 0.280 9 97854108 missense variant C/T snv
CUI: C1855794
Disease: Bamforth syndrome
Bamforth syndrome 		0.800 1.000 4 1998 2014
dbSNP: rs28937575
rs28937575
FOXE1 ; PTCSC2
0.851 0.280 9 97854084 missense variant G/A snv
CUI: C1855794
Disease: Bamforth syndrome
Bamforth syndrome 		0.800 1.000 4 1998 2014
dbSNP: rs538912281
rs538912281
FOXE1 ; PTCSC2
0.925 0.080 9 97854657 missense variant C/A;G;T snv 2.0E-03
CUI: C4225293
Disease: THYROID CANCER, NONMEDULLARY, 4
THYROID CANCER, NONMEDULLARY, 4 		0.800 1.000 1 2015 2015
dbSNP: rs1867277
rs1867277
FOXE1 ; PTCSC2
0.776 0.160 9 97853632 5 prime UTR variant A/G snv 0.63
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.750 1.000 6 2009 2015
dbSNP: rs1443434
rs1443434
FOXE1
0.851 0.080 9 97855197 3 prime UTR variant G/T snv 0.63
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.710 1.000 2 2009 2015
dbSNP: rs1443435
rs1443435
FOXE1
1.000 0.080 9 97855301 3 prime UTR variant T/C snv 0.63
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.700 1.000 1 2013 2013
dbSNP: rs104894111
rs104894111
FOXE1 ; PTCSC2
1.000 0.200 9 97854218 missense variant C/T snv 7.0E-06
CUI: C1968699
Disease: Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate
Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate 		0.700 0
dbSNP: rs1867277
rs1867277
FOXE1 ; PTCSC2
0.776 0.160 9 97853632 5 prime UTR variant A/G snv 0.63
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.080 0.750 8 2011 2017
dbSNP: rs1867277
rs1867277
FOXE1 ; PTCSC2
0.776 0.160 9 97853632 5 prime UTR variant A/G snv 0.63
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		0.050 1.000 5 2009 2015
dbSNP: rs1867277
rs1867277
FOXE1 ; PTCSC2
0.776 0.160 9 97853632 5 prime UTR variant A/G snv 0.63
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.050 1.000 5 2009 2015
dbSNP: rs104894110
rs104894110
FOXE1 ; PTCSC2
0.776 0.280 9 97854108 missense variant C/T snv
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.020 1.000 2 1998 2002
dbSNP: rs104894110
rs104894110
FOXE1 ; PTCSC2
0.776 0.280 9 97854108 missense variant C/T snv
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.020 1.000 2 1998 2002
dbSNP: rs104894110
rs104894110
FOXE1 ; PTCSC2
0.776 0.280 9 97854108 missense variant C/T snv
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.020 1.000 2 1998 2002
dbSNP: rs1867277
rs1867277
FOXE1 ; PTCSC2
0.776 0.160 9 97853632 5 prime UTR variant A/G snv 0.63
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		0.020 1.000 2 2015 2018
dbSNP: rs71369530
rs71369530
FOXE1 ; PTCSC2
0.851 0.080 9 97854419 inframe insertion GCCGCCGCCGCCGCCGCCGCCGCC/-;GCC;GCCGCC;GCCGCCGCC;GCCGCCGCCGCC;GCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC delins 0.68
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.020 1.000 2 2014 2014
dbSNP: rs71369530
rs71369530
FOXE1 ; PTCSC2
0.851 0.080 9 97854419 inframe insertion GCCGCCGCCGCCGCCGCCGCCGCC/-;GCC;GCCGCC;GCCGCCGCC;GCCGCCGCCGCC;GCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC delins 0.68
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.020 1.000 2 2014 2014
dbSNP: rs71369530
rs71369530
FOXE1 ; PTCSC2
0.851 0.080 9 97854419 inframe insertion GCCGCCGCCGCCGCCGCCGCCGCC/-;GCC;GCCGCC;GCCGCCGCC;GCCGCCGCCGCC;GCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC delins 0.68
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		0.020 1.000 2 2014 2014
dbSNP: rs104894110
rs104894110
FOXE1 ; PTCSC2
0.776 0.280 9 97854108 missense variant C/T snv
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.010 1.000 1 2002 2002
dbSNP: rs104894110
rs104894110
FOXE1 ; PTCSC2
0.776 0.280 9 97854108 missense variant C/T snv
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		0.010 1.000 1 1998 1998
dbSNP: rs104894110
rs104894110
FOXE1 ; PTCSC2
0.776 0.280 9 97854108 missense variant C/T snv
CUI: C0339864
Disease: Bifid epiglottis
Bifid epiglottis 		0.010 1.000 1 2002 2002
dbSNP: rs104894110
rs104894110
FOXE1 ; PTCSC2
0.776 0.280 9 97854108 missense variant C/T snv
CUI: C0749420
Disease: Thyroid Agenesis
Thyroid Agenesis 		0.010 1.000 1 1998 1998
dbSNP: rs1284307491
rs1284307491
FOXE1 ; PTCSC2
1.000 0.080 9 97854332 missense variant G/C snv 4.2E-06
CUI: C0342208
Disease: Multinodular goiter
Multinodular goiter 		0.010 1.000 1 2015 2015
dbSNP: rs1443434
rs1443434
FOXE1
0.851 0.080 9 97855197 3 prime UTR variant G/T snv 0.63
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		0.010 1.000 1 2015 2015
dbSNP: rs1443434
rs1443434
FOXE1
0.851 0.080 9 97855197 3 prime UTR variant G/T snv 0.63
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.010 1.000 1 2015 2015
dbSNP: rs1443434
rs1443434
FOXE1
0.851 0.080 9 97855197 3 prime UTR variant G/T snv 0.63
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.010 1.000 1 2017 2017