rs1567010427, DYNC1H1

N. diseases: 11
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.
Bulbous nose
CUI: C0240543
Disease: Bulbous nose
13 0.882 14 102010824 missense variant G/A snv 0.700 0
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
30 0.882 14 102010824 missense variant G/A snv 0.700 0
Expressive language delay
CUI: C0454641
Disease: Expressive language delay
25 0.882 14 102010824 missense variant G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 14 102010824 missense variant G/A snv 0.700 0
Highly arched eyebrow
CUI: C1868571
Disease: Highly arched eyebrow
14 0.882 14 102010824 missense variant G/A snv 0.700 0
Long narrow head
CUI: C0221358
Disease: Long narrow head
26 0.882 14 102010824 missense variant G/A snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 14 102010824 missense variant G/A snv 0.700 0
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.882 14 102010824 missense variant G/A snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.882 14 102010824 missense variant G/A snv 0.700 0
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 0.882 14 102010824 missense variant G/A snv 0.700 0
Small toe
CUI: C4022667
Disease: Small toe
1 0.882 14 102010824 missense variant G/A snv 0.700 0