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: rs79781594
rs79781594
RET
0.732 0.160 10 43113649 missense variant G/A;C;T snv
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.830 1.000 28 1993 2018
dbSNP: rs79781594
rs79781594
RET
0.732 0.160 10 43113649 missense variant G/A;C;T snv
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.820 1.000 21 1993 2017
dbSNP: rs79781594
rs79781594
RET
0.732 0.160 10 43113649 missense variant G/A;C;T snv
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 1.000 15 1994 2011