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: rs886044787
rs886044787
FOXP3
1.000 0.200 X 49253155 missense variant G/C snv
CUI: C0342288
Disease: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		0.710 1.000 1 2000 2011
dbSNP: rs1057520529
rs1057520529
FOXP3
0.851 0.320 X 49251440 missense variant C/T snv
CUI: C0342288
Disease: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		0.020 1.000 2 2014 2017
dbSNP: rs200554980
rs200554980
FOXP3
1.000 0.200 X 49257541 missense variant G/A snv 2.6E-04 2.3E-04
CUI: C0342288
Disease: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs782112916
rs782112916
FOXP3
1.000 0.200 X 49251335 stop retained variant C/T snv 3.8E-05
CUI: C0342288
Disease: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		0.010 1.000 1 2017 2017