rs875989800, SMARCB1

N. diseases: 33
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.
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
14 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 1.000 3 2012 2014
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
CUI: C3553248
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
8 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 1.000 1 2014 2014
Abnormal corpus callosum morphology
CUI: C1842581
Disease: Abnormal corpus callosum morphology
10 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Amblyopia
CUI: C0002418
Disease: Amblyopia
29 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Aplasia/Hypoplasia of the nails
CUI: C1859077
Disease: Aplasia/Hypoplasia of the nails
4 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Broad philtrum
CUI: C1854111
Disease: Broad philtrum
2 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Dextrocardia
CUI: C0011813
Disease: Dextrocardia
6 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Gastrostomy tube feeding in infancy
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
19 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Hernia, Inguinal
CUI: C0019294
Disease: Hernia, Inguinal
21 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Hiatal Hernia
CUI: C3489393
Disease: Hiatal Hernia
3 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Hypertrichosis
CUI: C0020555
Disease: Hypertrichosis
27 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Hypoplastic fifth fingernail
CUI: C4024682
Disease: Hypoplastic fifth fingernail
3 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Hypoplastic fifth toenail
CUI: C4023116
Disease: Hypoplastic fifth toenail
4 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Long eyelashes
CUI: C1853738
Disease: Long eyelashes
17 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
29 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Poor speech
CUI: C1848207
Disease: Poor speech
9 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
Pyloric Stenosis
CUI: C0034194
Disease: Pyloric Stenosis
4 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0