rs754129466, ASXL1

N. diseases: 2
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 1.000 20 32436955 stop gained C/G;T snv 1.2E-04 4.9E-05 0.700 1.000 7 2004 2015
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 20 32436955 stop gained C/G;T snv 1.2E-04 4.9E-05 0.700 1.000 7 2004 2015