rs312262830, OFD1

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.
Abnormality of brain morphology
CUI: C4021085
Disease: Abnormality of brain morphology
131 0.882 0.160 X 13739017 frameshift variant GAAA/- delins 0.700 1.000 2 2008 2014
JOUBERT SYNDROME 10 (disorder)
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
7 0.882 0.160 X 13739017 frameshift variant GAAA/- delins 0.700 1.000 2 2008 2014
Orofaciodigital Syndrome I
CUI: C1510460
Disease: Orofaciodigital Syndrome I
108 0.882 0.160 X 13739017 frameshift variant GAAA/- delins 0.700 1.000 1 2008 2008
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
CUI: C1846175
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
3 0.882 0.160 X 13739017 frameshift variant GAAA/- delins 0.700 1.000 1 2008 2008