rs1557106484, ATRX

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.
Absent speech
CUI: C1854882
Disease: Absent speech
72 X 77633315 missense variant C/A snv 0.700 0
Drooling
CUI: C0013132
Disease: Drooling
14 X 77633315 missense variant C/A snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 X 77633315 missense variant C/A snv 0.700 0
Low-set, posteriorly rotated ears
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
19 X 77633315 missense variant C/A snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 X 77633315 missense variant C/A snv 0.700 0
Psychomotor deterioration
CUI: C1836842
Disease: Psychomotor deterioration
2 X 77633315 missense variant C/A snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 X 77633315 missense variant C/A snv 0.700 0