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: rs763751076
rs763751076
AGXT
0.925 0.160 2 240875132 missense variant C/T snv 1.2E-05 6.3E-05
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 1.000 1 2017 2017