rs757823678, DNMT3A

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.
Tatton Brown Rahman syndrome
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
28 1.000 0.160 2 25240312 missense variant C/A;T snv 4.0E-06 0.810 1.000 4 2014 2019
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 1.000 0.160 2 25240312 missense variant C/A;T snv 4.0E-06 0.700 1.000 36 1989 2018