rs386833847, RECQL4

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.
Rapadilino syndrome
CUI: C1849453
Disease: Rapadilino syndrome
14 1.000 0.240 8 144514096 frameshift variant TCCC/- delins 0.700 0