rs746572548, TRMT1

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.
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68
CUI: C4749033
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68
3 1.000 19 13112965 frameshift variant ACGTCAAACCTCTCCGACACCCTCTGGTGCTG/- delins 1.4E-05 0.700 0