Source: ALL

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: rs730881979
rs730881979
1.000 0.160 19 1220434 missense variant G/A snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
0.800 1.000 13 1997 2017
dbSNP: rs730881979
rs730881979
1.000 0.160 19 1220434 missense variant G/A snv
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors
0.010 1.000 1 2019 2019