rs1057524874, PTEN;KLLN

N. diseases: 1
Source: CLINVAR ×
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.
MACROCEPHALY/AUTISM SYNDROME
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
21 1.000 0.200 10 87864510 frameshift variant -/GA delins 0.700 0