rs199469464, SRCAP

N. diseases: 8
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 0.807 0.200 16 30737370 stop gained C/T snv 0.700 1.000 8 2012 2016
Abnormal hair pattern
CUI: C4023721
Disease: Abnormal hair pattern
1 0.807 0.200 16 30737370 stop gained C/T snv 0.700 0
Convex nasal ridge
CUI: C0240538
Disease: Convex nasal ridge
8 0.807 0.200 16 30737370 stop gained C/T snv 0.700 0
Floating-harbor syndrome
CUI: C0729582
Disease: Floating-harbor syndrome
6 0.807 0.200 16 30737370 stop gained C/T snv 0.700 0
Macrotia
CUI: C0152421
Disease: Macrotia
18 0.807 0.200 16 30737370 stop gained C/T snv 0.700 0
Microstomia
CUI: C0026034
Disease: Microstomia
9 0.807 0.200 16 30737370 stop gained C/T snv 0.700 0
Oral cleft
CUI: C4021813
Disease: Oral cleft
28 0.807 0.200 16 30737370 stop gained C/T snv 0.700 0
Orbital separation diminished
CUI: C0424711
Disease: Orbital separation diminished
11 0.807 0.200 16 30737370 stop gained C/T snv 0.700 0