Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs757823678
rs757823678
DNMT3A
1.000 0.160 2 25240312 missense variant C/A;T snv 4.0E-06
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.810 1.000 0 2014 2019
dbSNP: rs757823678
rs757823678
DNMT3A
1.000 0.160 2 25240312 missense variant C/A;T snv 4.0E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 36 1989 2018