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: 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: rs1060500759
rs1060500759
RET
1.000 0.120 10 43120162 stop gained C/T snv
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		0.700 0
dbSNP: rs1183365192
rs1183365192
RET
0.851 0.160 10 43106550 missense variant C/T snv 7.0E-06
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.010 1.000 1 1997 1997
dbSNP: rs1183365192
rs1183365192
RET
0.851 0.160 10 43106550 missense variant C/T snv 7.0E-06
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		0.010 1.000 1 1997 1997
dbSNP: rs1183365192
rs1183365192
RET
0.851 0.160 10 43106550 missense variant C/T snv 7.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 1997 1997
dbSNP: rs1183365192
rs1183365192
RET
0.851 0.160 10 43106550 missense variant C/T snv 7.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.010 1.000 1 1997 1997
dbSNP: rs1195962825
rs1195962825
RET
1.000 0.120 10 43112884 synonymous variant C/T snv 4.0E-06
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		0.010 1.000 1 2011 2011
dbSNP: rs1204846773
rs1204846773
RET
1.000 0.080 10 43113581 missense variant G/T snv
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.010 1.000 1 2010 2010
dbSNP: rs1206969193
rs1206969193
RET
0.925 0.200 10 43112117 missense variant G/A snv
CUI: C0268397
Disease: Amyloidosis, Primary Cutaneous
Amyloidosis, Primary Cutaneous 		0.010 1.000 1 2015 2015
dbSNP: rs1206969193
rs1206969193
RET
0.925 0.200 10 43112117 missense variant G/A snv
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs121913306
rs121913306
RET
0.851 0.120 10 43120119 missense variant AGC/TTT mnv
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		0.020 1.000 2 2011 2017
dbSNP: rs121913306
rs121913306
RET
0.851 0.120 10 43120119 missense variant AGC/TTT mnv
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.020 1.000 2 1999 2017
dbSNP: rs121913306
rs121913306
RET
0.851 0.120 10 43120119 missense variant AGC/TTT mnv
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		0.010 1.000 1 2011 2011
dbSNP: rs121913306
rs121913306
RET
0.851 0.120 10 43120119 missense variant AGC/TTT mnv
CUI: C0027662
Disease: Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia 		0.010 1.000 1 2017 2017
dbSNP: rs121913308
rs121913308
RET
0.827 0.120 10 43114492 missense variant A/C;G;T snv
CUI: C0018021
Disease: Goiter
Goiter 		0.010 1.000 1 2005 2005
dbSNP: rs121913308
rs121913308
RET
0.827 0.120 10 43114492 missense variant A/C;G;T snv
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.010 1.000 1 2005 2005
dbSNP: rs121913308
rs121913308
RET
0.827 0.120 10 43114492 missense variant A/C;G;T snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.010 1.000 1 2005 2005
dbSNP: rs121913308
rs121913308
RET
0.827 0.120 10 43114492 missense variant A/C;G;T snv
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		0.700 1.000 1 2014 2014
dbSNP: rs121913308
rs121913308
RET
0.827 0.120 10 43114492 missense variant A/C;G;T snv
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		0.010 1.000 1 2005 2005
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: rs121913309
rs121913309
RET
1.000 0.080 10 43120164 inframe deletion TGTTTATGAAGA/- delins
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		0.700 1.000 1 2014 2014
dbSNP: rs121913312
rs121913312
RET
1.000 0.080 10 43114494 inframe deletion GAGCTG/- del
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		0.700 1.000 1 2014 2014
dbSNP: rs121913313
rs121913313
RET
1.000 0.080 10 43113626 inframe deletion TTCCCTGAGGAGGAGAAGTGCTTCTGC/- delins
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		0.700 1.000 1 2014 2014
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