rs875989800, SMARCB1

N. diseases: 33
Source: CURATED ×
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.
Recurrent infections
CUI: C0239998
Disease: Recurrent infections
14 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
120 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
417 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Sparse scalp hair
CUI: C1857042
Disease: Sparse scalp hair
7 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Thick eyebrow
CUI: C1853487
Disease: Thick eyebrow
13 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Thick lower lip vermilion
CUI: C1839739
Disease: Thick lower lip vermilion
10 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Thick upper lip vermilion
CUI: C1846423
Disease: Thick upper lip vermilion
4 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0