rs1057518934, HERC2

N. diseases: 8
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.
Aplasia/Hypoplasia of the cerebellum
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
5 0.851 0.240 15 28211095 frameshift variant G/- delins 0.700 0
Global brain atrophy
CUI: C0241816
Disease: Global brain atrophy
6 0.851 0.240 15 28211095 frameshift variant G/- delins 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.851 0.240 15 28211095 frameshift variant G/- delins 0.700 0
Hypoplasia of the optic nerve
CUI: C0338502
Disease: Hypoplasia of the optic nerve
14 0.851 0.240 15 28211095 frameshift variant G/- delins 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 0.851 0.240 15 28211095 frameshift variant G/- delins 0.700 0
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
45 0.851 0.240 15 28211095 frameshift variant G/- delins 0.700 0
Paraparesis
CUI: C0221166
Disease: Paraparesis
5 0.851 0.240 15 28211095 frameshift variant G/- delins 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.851 0.240 15 28211095 frameshift variant G/- delins 0.700 0