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: rs16995309
rs16995309
PTPN1
0.882 0.280 20 50581336 missense variant C/T snv 4.8E-03 5.0E-03
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 0.500 2 2002 2005
dbSNP: rs16995309
rs16995309
PTPN1
0.882 0.280 20 50581336 missense variant C/T snv 4.8E-03 5.0E-03
CUI: C2931689
Disease: Dystrophia myotonica 2
Dystrophia myotonica 2 		0.010 < 0.001 1 2005 2005
dbSNP: rs16995309
rs16995309
PTPN1
0.882 0.280 20 50581336 missense variant C/T snv 4.8E-03 5.0E-03
CUI: C0342257
Disease: Complications of Diabetes Mellitus
Complications of Diabetes Mellitus 		0.010 < 0.001 1 2004 2004
dbSNP: rs16995309
rs16995309
PTPN1
0.882 0.280 20 50581336 missense variant C/T snv 4.8E-03 5.0E-03
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2017 2017