Disease: RENAL HYPODYSPLASIA/APLASIA 3 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555654020
rs1555654020 		1.000 18 21473099 missense variant C/T snv
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.800 1.000 3 2017 2017
dbSNP: rs1555662027
rs1555662027 		1.000 18 21508463 missense variant A/G snv
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.800 1.000 3 2017 2017
dbSNP: rs1555662061
rs1555662061 		1.000 18 21508556 missense variant T/C snv
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.800 1.000 3 2017 2017
dbSNP: rs1555663997
rs1555663997 		1.000 18 21515583 missense variant G/A snv
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.800 1.000 3 2017 2017
dbSNP: rs1555664772
rs1555664772 		1.000 18 21518140 missense variant T/G snv
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.800 1.000 3 2017 2017
dbSNP: rs1311814599
rs1311814599 		1.000 18 21440302 missense variant G/A snv 1.4E-05
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.800 0
dbSNP: rs1409376788
rs1409376788 		1.000 18 21513928 missense variant G/A snv 1.3E-05
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.700 1.000 3 2017 2017
dbSNP: rs1465443065
rs1465443065 		1.000 18 21473129 missense variant G/C snv 7.0E-06
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.700 1.000 3 2017 2017
dbSNP: rs1045574508
rs1045574508 		1.000 18 21508528 missense variant C/A;T snv 1.3E-05; 1.3E-05
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.700 0
dbSNP: rs1336205837
rs1336205837 		1.000 18 21508275 missense variant A/T snv 6.4E-06
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.700 0
dbSNP: rs1343579561
rs1343579561 		1.000 18 21473100 missense variant G/A snv 2.6E-05 7.0E-06
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.700 0
dbSNP: rs1372640211
rs1372640211 		1.000 18 21522700 missense variant G/A snv 2.6E-05 2.1E-05
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.700 0
dbSNP: rs1555649811
rs1555649811 		1.000 18 21449696 frameshift variant C/- delins
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.700 0
dbSNP: rs1555650110
rs1555650110 		1.000 18 21451082 stop gained G/T snv
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.700 0
dbSNP: rs1555659101
rs1555659101 		1.000 18 21496602 stop gained C/T snv
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.700 0
dbSNP: rs1555660209
rs1555660209 		1.000 18 21500568 frameshift variant -/C delins
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.700 0
dbSNP: rs1555661907
rs1555661907 		1.000 18 21508117 splice acceptor variant G/C snv
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.700 0
dbSNP: rs1555662052
rs1555662052 		1.000 18 21508536 stop gained C/A snv
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.700 0
dbSNP: rs1555665627
rs1555665627 		1.000 18 21520823 splice donor variant G/- delins
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.700 0
dbSNP: rs766987038
rs766987038 		1.000 18 21496504 missense variant G/A;C snv 6.4E-06; 1.3E-05
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.700 0