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: rs142833529
rs142833529
1.000 0.120 12 12718195 missense variant T/A;C;G snv 1.2E-05; 5.3E-04
CUI: C0001206
Disease: Acromegaly
Acromegaly
0.010 1.000 1 2012 2012