rs1114167293, C12orf57

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Atrophy of kidney
CUI: C0341698
Disease: Atrophy of kidney
1 0.807 0.320 12 6944474 splice acceptor variant A/G snv 4.0E-06 0.700 0
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
420 0.807 0.320 12 6944474 splice acceptor variant A/G snv 4.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.320 12 6944474 splice acceptor variant A/G snv 4.0E-06 0.700 0
Hydronephrosis
CUI: C0020295
Disease: Hydronephrosis
18 0.807 0.320 12 6944474 splice acceptor variant A/G snv 4.0E-06 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.807 0.320 12 6944474 splice acceptor variant A/G snv 4.0E-06 0.700 0
Temtamy syndrome
CUI: C1857512
Disease: Temtamy syndrome
5 0.807 0.320 12 6944474 splice acceptor variant A/G snv 4.0E-06 0.700 0
Vesico-Ureteral Reflux
CUI: C0042580
Disease: Vesico-Ureteral Reflux
23 0.807 0.320 12 6944474 splice acceptor variant A/G snv 4.0E-06 0.700 0