rs587783772, MTM1

N. diseases: 14
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.
X-linked centronuclear myopathy
CUI: C0410203
Disease: X-linked centronuclear myopathy
140 0.776 0.200 X 150659665 missense variant G/A;T snv 0.800 1.000 17 1997 2013
Abnormality of the nares
CUI: C4021637
Disease: Abnormality of the nares
2 0.776 0.200 X 150659665 missense variant G/A;T snv 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.776 0.200 X 150659665 missense variant G/A;T snv 0.700 0
Clinodactyly of toe
CUI: C4021770
Disease: Clinodactyly of toe
2 0.776 0.200 X 150659665 missense variant G/A;T snv 0.700 0
Congenital microcephaly
CUI: C2677180
Disease: Congenital microcephaly
29 0.776 0.200 X 150659665 missense variant G/A;T snv 0.700 0
Diffuse white matter abnormalities
CUI: C4024923
Disease: Diffuse white matter abnormalities
4 0.776 0.200 X 150659665 missense variant G/A;T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.776 0.200 X 150659665 missense variant G/A;T snv 0.700 0
Generalized neonatal hypotonia
CUI: C1845123
Disease: Generalized neonatal hypotonia
3 0.776 0.200 X 150659665 missense variant G/A;T snv 0.700 0
Large nostrils
CUI: C0426440
Disease: Large nostrils
2 0.776 0.200 X 150659665 missense variant G/A;T snv 0.700 0
Leukoaraiosis
CUI: C0948163
Disease: Leukoaraiosis
24 0.776 0.200 X 150659665 missense variant G/A;T snv 0.700 0
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
45 0.776 0.200 X 150659665 missense variant G/A;T snv 0.700 0
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
28 0.776 0.200 X 150659665 missense variant G/A;T snv 0.700 0
Reduced fetal movement
CUI: C0235659
Disease: Reduced fetal movement
17 0.776 0.200 X 150659665 missense variant G/A;T snv 0.700 0
Secondary microcephaly
CUI: C0431352
Disease: Secondary microcephaly
20 0.776 0.200 X 150659665 missense variant G/A;T snv 0.700 0