UBE2A, ubiquitin conjugating enzyme E2 A, 7319

N. diseases: 96; N. variants: 5
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1556235119
rs1556235119
1.000 X 119574712 start lost A/G snv
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 8 2006 2017