FANCA, FA complementation group A, 2175

N. diseases: 211; N. variants: 206
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: rs1279983084
rs1279983084
16 89752163 missense variant T/C snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 < 0.001 1 2015 2015
dbSNP: rs2239359
rs2239359
16 89783072 missense variant C/T snv 0.50 0.51
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2009 2009