rs1057517948, ATRX

N. diseases: 1
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.
Juberg-Marsidi syndrome
CUI: C0796003
Disease: Juberg-Marsidi syndrome
14 1.000 0.200 X 77574322 missense variant C/A;T snv 0.700 0