Source: BEFREE

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: rs78014899
rs78014899
RET
0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.830 1.000 3 1996 2018
dbSNP: rs78014899
rs78014899
RET
0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		0.710 1.000 1 1997 2006
dbSNP: rs78014899
rs78014899
RET
0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		0.010 < 0.001 1 2006 2006
dbSNP: rs78014899
rs78014899
RET
0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid 		0.010 1.000 1 2018 2018
dbSNP: rs78014899
rs78014899
RET
0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.010 < 0.001 1 2006 2006
dbSNP: rs78014899
rs78014899
RET
0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism 		0.010 < 0.001 1 2006 2006