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: rs377767429
rs377767429
RET
0.790 0.120 10 43120120 missense variant GC/TT mnv
Multiple Endocrine Neoplasia Type 2b
0.810 1.000 1 1994 2017
dbSNP: rs377767429
rs377767429
RET
0.790 0.120 10 43120120 missense variant GC/TT mnv
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid
0.720 1.000 2 2004 2017
dbSNP: rs377767429
rs377767429
RET
0.790 0.120 10 43120120 missense variant GC/TT mnv
Familial medullary thyroid carcinoma
0.020 1.000 2 1999 2017
dbSNP: rs377767429
rs377767429
RET
0.790 0.120 10 43120120 missense variant GC/TT mnv
CUI: C0027662
Disease: Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia
0.010 1.000 1 2017 2017