Source: UNIPROT

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: rs75996173
rs75996173
RET
0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
Multiple Endocrine Neoplasia Type 2a
0.900 0.974 21 1993 2018
dbSNP: rs74799832
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06
Multiple Endocrine Neoplasia Type 2b
0.900 0.974 8 1994 2019
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
Multiple Endocrine Neoplasia Type 2a
0.890 1.000 9 1994 2017
dbSNP: rs79658334
rs79658334
RET
0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06
Familial medullary thyroid carcinoma
0.880 1.000 8 1996 2018
dbSNP: rs76262710
rs76262710
RET
0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06
Familial medullary thyroid carcinoma
0.870 1.000 28 1993 2018
dbSNP: rs75234356
rs75234356
RET
0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06
Familial medullary thyroid carcinoma
0.870 1.000 20 1993 2018
dbSNP: rs75996173
rs75996173
RET
0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.850 1.000 3 2002 2014
dbSNP: rs76262710
rs76262710
RET
0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06
Multiple Endocrine Neoplasia Type 2a
0.840 1.000 21 1993 2017
dbSNP: rs79781594
rs79781594
RET
0.732 0.160 10 43113649 missense variant G/A;C;T snv
Familial medullary thyroid carcinoma
0.830 1.000 28 1993 2018
dbSNP: rs77316810
rs77316810
RET
0.776 0.200 10 43113654 missense variant T/A;C;G snv
Multiple Endocrine Neoplasia Type 2a
0.830 1.000 9 1994 2017
dbSNP: rs77939446
rs77939446
RET
0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06
Multiple Endocrine Neoplasia Type 2a
0.830 1.000 9 1994 2017
dbSNP: rs78014899
rs78014899
RET
0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06
Familial medullary thyroid carcinoma
0.830 1.000 8 1996 2018
dbSNP: rs75030001
rs75030001
RET
0.807 0.160 10 43118458 missense variant G/C;T snv 4.0E-06; 2.0E-05
Familial medullary thyroid carcinoma
0.830 1.000 0 2012 2018
dbSNP: rs77724903
rs77724903
RET
0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.830 0.667 0 2010 2015
dbSNP: rs75996173
rs75996173
RET
0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
Familial medullary thyroid carcinoma
0.820 1.000 28 1993 2018
dbSNP: rs79781594
rs79781594
RET
0.732 0.160 10 43113649 missense variant G/A;C;T snv
Multiple Endocrine Neoplasia Type 2a
0.820 1.000 21 1993 2017
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.820 1.000 3 2005 2014
dbSNP: rs77724903
rs77724903
RET
0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03
Familial medullary thyroid carcinoma
0.810 1.000 20 1993 2007
dbSNP: rs77724903
rs77724903
RET
0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03
Multiple Endocrine Neoplasia Type 2a
0.810 0.929 12 1993 2013
dbSNP: rs77503355
rs77503355
RET
0.776 0.160 10 43113655 missense variant G/A;C;T snv
Multiple Endocrine Neoplasia Type 2a
0.810 1.000 9 1994 2017
dbSNP: rs77558292
rs77558292
RET
0.776 0.160 10 43113621 missense variant T/A;C;G snv
Multiple Endocrine Neoplasia Type 2a
0.810 1.000 9 1996 2017
dbSNP: rs377767429
rs377767429
RET
0.790 0.120 10 43120120 missense variant GC/TT mnv
Multiple Endocrine Neoplasia Type 2b
0.810 1.000 7 1994 2017
dbSNP: rs77709286
rs77709286
RET
0.752 0.160 10 43114502 missense variant C/G snv 4.0E-06
Multiple Endocrine Neoplasia Type 2a
0.800 1.000 21 1993 2017
dbSNP: rs80069458
rs80069458
RET
0.882 0.120 10 43113629 missense variant C/G;T snv
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
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
0.800 1.000 15 1994 2011