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: rs758865880
rs758865880
KYNU
0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		0.700 1.000 1 2017 2017
dbSNP: rs770642379
rs770642379
KYNU
0.807 0.280 2 143040430 frameshift variant TTTAAGC/- delins 3.2E-05 2.8E-05
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		0.700 1.000 1 2017 2017
dbSNP: rs1563322318
rs1563322318
ERI1
0.925 0.120 8 9018335 frameshift variant A/- delins
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		0.700 0
dbSNP: rs4647924
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		0.700 0
dbSNP: rs765379963
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		0.700 0
dbSNP: rs767978562
rs767978562
FREM2
0.790 0.320 13 38851093 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		0.700 0
dbSNP: rs121913059
rs121913059
CFH
0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		0.010 1.000 1 2009 2009