rs61751035, RPS6KC1

N. diseases: 6
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.
Delayed myelination
CUI: C1277241
Disease: Delayed myelination
6 0.882 0.160 1 213242186 missense variant G/A snv 2.4E-05 1.4E-05 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.160 1 213242186 missense variant G/A snv 2.4E-05 1.4E-05 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.882 0.160 1 213242186 missense variant G/A snv 2.4E-05 1.4E-05 0.700 0
Leukoaraiosis
CUI: C0948163
Disease: Leukoaraiosis
24 0.882 0.160 1 213242186 missense variant G/A snv 2.4E-05 1.4E-05 0.700 0
Leukomalacia, Periventricular
CUI: C0023529
Disease: Leukomalacia, Periventricular
10 0.882 0.160 1 213242186 missense variant G/A snv 2.4E-05 1.4E-05 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 0.160 1 213242186 missense variant G/A snv 2.4E-05 1.4E-05 0.700 0