rs1556024875, THOC2

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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.882 0.160 X 123634002 missense variant G/A snv 0.700 0
MENTAL RETARDATION, X-LINKED 12
CUI: C0796218
Disease: MENTAL RETARDATION, X-LINKED 12
9 0.882 0.160 X 123634002 missense variant G/A snv 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.882 0.160 X 123634002 missense variant G/A snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.882 0.160 X 123634002 missense variant G/A snv 0.700 0