rs1568269273, NFIX

N. diseases: 18
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.
Blue sclera
CUI: C0542514
Disease: Blue sclera
13 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
Congenital keratoglobus
CUI: C0344530
Disease: Congenital keratoglobus
9 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
Distal ulnar hypoplasia
CUI: C1833145
Disease: Distal ulnar hypoplasia
1 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
Exophthalmos
CUI: C0015300
Disease: Exophthalmos
12 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
High, narrow palate
CUI: C1837404
Disease: High, narrow palate
21 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
Laryngomalacia
CUI: C0264303
Disease: Laryngomalacia
18 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
Long fingers
CUI: C1858091
Disease: Long fingers
6 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
Long toe
CUI: C3150613
Disease: Long toe
8 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
Pointed chin
CUI: C1844505
Disease: Pointed chin
13 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
Prominence of the premaxilla
CUI: C2749369
Disease: Prominence of the premaxilla
1 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
25 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
Proximal placement of thumb
CUI: C1865572
Disease: Proximal placement of thumb
3 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
Short nose
CUI: C1854114
Disease: Short nose
23 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
Small midface
CUI: C2673410
Disease: Small midface
24 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
Thick upper lip vermilion
CUI: C1846423
Disease: Thick upper lip vermilion
4 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0