rs1057518913, EHMT1

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.
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.851 0.320 9 137762822 splice donor variant T/C snv 0.700 0
Coarse facial features
CUI: C1845847
Disease: Coarse facial features
33 0.851 0.320 9 137762822 splice donor variant T/C snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.320 9 137762822 splice donor variant T/C snv 0.700 0
KLEEFSTRA SYNDROME 1
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
25 0.851 0.320 9 137762822 splice donor variant T/C snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.851 0.320 9 137762822 splice donor variant T/C snv 0.700 0
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
2897 0.851 0.320 9 137762822 splice donor variant T/C snv 0.700 0
Synophrys
CUI: C0431447
Disease: Synophrys
23 0.851 0.320 9 137762822 splice donor variant T/C snv 0.700 0