rs377767412, RET

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Congenital central hypoventilation
CUI: C1275808
Disease: Congenital central hypoventilation
15 0.790 0.240 10 43114547 synonymous variant G/A snv 0.700 0
Familial medullary thyroid carcinoma
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
45 0.790 0.240 10 43114547 synonymous variant G/A snv 0.700 0
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
52 0.790 0.240 10 43114547 synonymous variant G/A snv 0.700 0
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
38 0.790 0.240 10 43114547 synonymous variant G/A snv 0.700 0
Multiple Endocrine Neoplasia Type 2a
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
44 0.790 0.240 10 43114547 synonymous variant G/A snv 0.700 0
Multiple Endocrine Neoplasia Type 2b
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
21 0.790 0.240 10 43114547 synonymous variant G/A snv 0.700 0
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.790 0.240 10 43114547 synonymous variant G/A snv 0.700 0