SP140, SP140 nuclear body protein, 11262

N. diseases: 32; N. variants: 26
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: rs3769839
rs3769839
0.925 0.080 2 230211910 intron variant T/C snv 0.12
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
Neoplasms 0.700 1.000 1 2018 2018