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
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.900 0.974 21 1993 2018
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.890 1.000 9 1994 2017
dbSNP: rs76262710
rs76262710
RET
0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.840 1.000 21 1993 2017
dbSNP: rs77316810
rs77316810
RET
0.776 0.200 10 43113654 missense variant T/A;C;G snv
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
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
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.830 1.000 9 1994 2017
dbSNP: rs79781594
rs79781594
RET
0.732 0.160 10 43113649 missense variant G/A;C;T snv
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.820 1.000 21 1993 2017
dbSNP: rs77724903
rs77724903
RET
0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
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
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
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
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.810 1.000 9 1996 2017
dbSNP: rs77709286
rs77709286
RET
0.752 0.160 10 43114502 missense variant C/G snv 4.0E-06
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
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
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.800 1.000 21 1993 2017
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 9 1996 2017
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: rs377767405
rs377767405
RET
0.827 0.120 10 43114489 missense variant G/A;C;T snv
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.710 1.000 0 2007 2007
dbSNP: rs377767391
rs377767391
RET
0.827 0.160 10 43113627 missense variant T/A;C;G snv
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.700 0
dbSNP: rs377767397
rs377767397
RET
0.790 0.280 10 43113628 missense variant G/A;C;T snv
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.700 0
dbSNP: rs79890926
rs79890926
RET
0.827 0.160 10 43113656 missense variant C/G;T snv 1.6E-05
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.700 0