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: rs10937158
rs10937158
ABCC5
3 183990651 intron variant T/C snv 0.62
CUI: C1443924
Disease: Severe diarrhea
Severe diarrhea 		0.010 1.000 1 2015 2015
dbSNP: rs1132776
rs1132776
ABCC5
0.925 0.040 3 183978614 synonymous variant A/G snv 0.58 0.61
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.010 1.000 1 2017 2017
dbSNP: rs1132776
rs1132776
ABCC5
0.925 0.040 3 183978614 synonymous variant A/G snv 0.58 0.61
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma 		0.010 1.000 1 2017 2017
dbSNP: rs1459206697
rs1459206697
ABCC5
1.000 0.080 3 183961651 missense variant G/C snv 4.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 < 0.001 1 2014 2014
dbSNP: rs3749438
rs3749438
ABCC5
3 183987396 3 prime UTR variant G/A snv 0.33
CUI: C1443924
Disease: Severe diarrhea
Severe diarrhea 		0.010 1.000 1 2015 2015
dbSNP: rs939336
rs939336
ABCC5
0.925 0.040 3 183967746 stop gained A/G;T snv 0.58
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.010 1.000 1 2017 2017
dbSNP: rs939336
rs939336
ABCC5
0.925 0.040 3 183967746 stop gained A/G;T snv 0.58
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma 		0.010 1.000 1 2017 2017