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: rs80069458
rs80069458
RET
0.882 0.120 10 43113629 missense variant C/G;T snv
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.800 1.000 21 1993 2017
dbSNP: rs1554818362
rs1554818362
RET
1.000 10 43109163 missense variant C/T snv
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.800 1.000 15 1994 2011
dbSNP: rs537874538
rs537874538
RET
1.000 10 43111381 missense variant G/A snv 2.7E-04 5.6E-05
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.800 1.000 15 1994 2011
dbSNP: rs76087194
rs76087194
RET
1.000 10 43120163 missense variant G/A snv
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.800 1.000 15 1994 2011
dbSNP: rs76262710
rs76262710
RET
0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.800 1.000 15 1994 2011
dbSNP: rs76534745
rs76534745
RET
1.000 10 43123783 missense variant A/G snv
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.800 1.000 15 1994 2011
dbSNP: rs77596424
rs77596424
RET
1.000 10 43100576 missense variant C/T snv
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.800 1.000 15 1994 2011
dbSNP: rs78098482
rs78098482
RET
1.000 10 43109146 missense variant C/A snv
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.800 1.000 15 1994 2011
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		0.800 1.000 13 1995 2018
dbSNP: rs75030001
rs75030001
RET
0.807 0.160 10 43118458 missense variant G/C;T snv 4.0E-06; 2.0E-05
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.800 1.000 12 1996 2017
dbSNP: rs79658334
rs79658334
RET
0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		0.800 1.000 12 1997 2019
dbSNP: rs78935588
rs78935588
RET
1.000 0.120 10 43114519 missense variant C/G snv
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.800 1.000 9 1996 2017
dbSNP: rs77503355
rs77503355
RET
0.776 0.160 10 43113655 missense variant G/A;C;T snv
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.800 1.000 8 1996 2017
dbSNP: rs77939446
rs77939446
RET
0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.800 1.000 8 1996 2017
dbSNP: rs2742234
rs2742234
RET
0.925 0.080 10 43117161 intron variant C/T snv 0.77
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.800 1.000 1 2009 2009
dbSNP: rs77709286
rs77709286
RET
0.752 0.160 10 43114502 missense variant C/G snv 4.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 0
dbSNP: rs75996173
rs75996173
RET
0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		0.770 1.000 8 1995 2015
dbSNP: rs74799832
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.770 1.000 7 1996 2018
dbSNP: rs77316810
rs77316810
RET
0.776 0.200 10 43113654 missense variant T/A;C;G snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.760 1.000 33 1994 2017
dbSNP: rs75234356
rs75234356
RET
0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		0.760 1.000 7 1997 2019
dbSNP: rs77724903
rs77724903
RET
0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		0.750 0.833 6 2005 2015
dbSNP: rs79658334
rs79658334
RET
0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.740 1.000 17 1996 2017
dbSNP: rs77939446
rs77939446
RET
0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		0.740 1.000 5 1995 2009
dbSNP: rs74799832
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.740 1.000 4 1997 2019
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.740 1.000 4 1994 2018