rs727503773, SMC1A

N. diseases: 7
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.
Congenital muscular hypertrophy-cerebral syndrome
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
50 0.882 0.160 X 53412950 inframe deletion TCT/- delins 0.700 1.000 2 2009 2019
Abnormal heart valve morphology
CUI: C0241654
Disease: Abnormal heart valve morphology
1 0.882 0.160 X 53412950 inframe deletion TCT/- delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.160 X 53412950 inframe deletion TCT/- delins 0.700 0
Hirsutism
CUI: C0019572
Disease: Hirsutism
17 0.882 0.160 X 53412950 inframe deletion TCT/- delins 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.882 0.160 X 53412950 inframe deletion TCT/- delins 0.700 0
Muscle Hypertonia
CUI: C0026826
Disease: Muscle Hypertonia
21 0.882 0.160 X 53412950 inframe deletion TCT/- delins 0.700 0
Progressive sensorineural hearing impairment
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
28 0.882 0.160 X 53412950 inframe deletion TCT/- delins 0.700 0