rs199529397, RET

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
162 0.925 0.080 10 43109070 missense variant G/A snv 5.6E-05 6.3E-05 0.020 1.000 2 2010 2016
Chronic intestinal pseudo-obstruction
CUI: C0238062
Disease: Chronic intestinal pseudo-obstruction
10 0.925 0.080 10 43109070 missense variant G/A snv 5.6E-05 6.3E-05 0.010 1.000 1 2016 2016