rs1131692227, KDM5C

N. diseases: 6
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.
Congenital torticollis
CUI: C0079352
Disease: Congenital torticollis
6 0.851 0.160 X 53194576 frameshift variant AGAGC/- delins 0.700 0
Delayed speech and language development
192 0.851 0.160 X 53194576 frameshift variant AGAGC/- delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.160 X 53194576 frameshift variant AGAGC/- delins 0.700 0
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
24 0.851 0.160 X 53194576 frameshift variant AGAGC/- delins 0.700 0
Neurodevelopmental abnormality
CUI: C4022737
Disease: Neurodevelopmental abnormality
19 0.851 0.160 X 53194576 frameshift variant AGAGC/- delins 0.700 0
Plagiocephaly
CUI: C0265529
Disease: Plagiocephaly
12 0.851 0.160 X 53194576 frameshift variant AGAGC/- delins 0.700 0