BARD1, BRCA1 associated RING domain 1, 580

N. diseases: 75; N. variants: 176
Disease: stage, neuroblastoma ×
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: rs3768716
rs3768716 		0.851 0.080 2 214771070 intron variant T/C snv 0.16
CUI: C0280216
Disease: stage, neuroblastoma
stage, neuroblastoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs6435862
rs6435862 		0.827 0.160 2 214807822 intron variant G/A;C;T snv
CUI: C0280216
Disease: stage, neuroblastoma
stage, neuroblastoma 		Neoplasms 0.010 1.000 1 2016 2016