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: 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: rs77939446
rs77939446
RET
0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.800 1.000 8 1996 2017
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