NAT2, N-acetyltransferase 2, 10

N. diseases: 311; N. variants: 10
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: rs1799930
rs1799930
0.716 0.400 8 18400593 missense variant G/A snv 0.27 0.27
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2010 2017
dbSNP: rs1041983
rs1041983
0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1801280
rs1801280
0.716 0.440 8 18400344 missense variant T/C snv 0.38 0.39
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016