BAP1, BRCA1 associated protein 1, 8314

N. diseases: 299; N. variants: 72
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: rs752536342
rs752536342
1.000 0.040 3 52408080 splice region variant G/A;T snv 4.4E-06
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma
Neoplasms 0.700 0