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: rs1060499894
rs1060499894
RET
1.000 10 43106455 missense variant G/C;T snv
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs121913308
rs121913308
RET
0.827 0.120 10 43114492 missense variant A/C;G;T snv
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.700 0
dbSNP: rs1255575160
rs1255575160
RET
1.000 10 43113672 missense variant C/A snv 4.0E-06
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1318733775
rs1318733775
RET
1.000 10 43119576 missense variant G/A snv 4.1E-06 7.0E-06
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1451004715
rs1451004715
RET
1.000 10 43120091 missense variant G/A snv
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1477699803
rs1477699803
RET
1.000 10 43100662 missense variant G/A snv
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs149403911
rs149403911
RET
1.000 0.080 10 43102492 missense variant G/A;T snv 2.0E-05
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 0
dbSNP: rs192489011
rs192489011
RET
1.000 0.120 10 43100585 missense variant G/A;T snv 1.1E-03; 4.0E-06
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		0.700 0
dbSNP: rs200127630
rs200127630
RET
1.000 10 43119626 missense variant G/A snv 5.2E-05 2.1E-05
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0
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: rs377767391
rs377767391
RET
0.827 0.160 10 43113627 missense variant T/A;C;G snv
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.700 0
dbSNP: rs377767396
rs377767396
RET
0.925 0.080 10 43113623 missense variant C/G;T snv
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		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: rs377767405
rs377767405
RET
0.827 0.120 10 43114489 missense variant G/A;C;T snv
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.700 0
dbSNP: rs377767430
rs377767430
RET
0.882 0.080 10 43120192 missense variant A/C;G snv
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs377767432
rs377767432
RET
0.925 0.160 10 43121980 missense variant C/A;T snv
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.700 0
dbSNP: rs541929171
rs541929171
RET
1.000 10 43105158 missense variant A/G snv 2.8E-05 7.0E-06
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs562449603
rs562449603
RET
1.000 10 43105077 missense variant G/A snv
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs746970700
rs746970700
RET
1.000 10 43109201 missense variant G/A snv 4.0E-06 2.1E-05
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs747483905
rs747483905
RET
1.000 10 43102344 missense variant C/A;T snv 8.0E-06
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs767601598
rs767601598
RET
1.000 10 43111210 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0
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: rs77939446
rs77939446
RET
0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		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
dbSNP: rs79890926
rs79890926
RET
0.827 0.160 10 43113656 missense variant C/G;T snv 1.6E-05
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0