rs749523755, CPLANE1

N. diseases: 4
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.
JOUBERT SYNDROME 17
CUI: C3553264
Disease: JOUBERT SYNDROME 17
65 0.882 0.080 5 37157810 stop gained A/T snv 2.4E-05 7.0E-06 0.700 1.000 2 2015 2015
OROFACIODIGITAL SYNDROME VI
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
29 0.882 0.080 5 37157810 stop gained A/T snv 2.4E-05 7.0E-06 0.700 1.000 2 2015 2015
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.080 5 37157810 stop gained A/T snv 2.4E-05 7.0E-06 0.700 0
Icterus
CUI: C0022346
Disease: Icterus
17 0.882 0.080 5 37157810 stop gained A/T snv 2.4E-05 7.0E-06 0.700 0