Disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY ×
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: rs387907351
rs387907351 		1.000 7 2944495 missense variant T/C snv 7.0E-06
CUI: C4551967
Disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY 		0.810 1.000 1 2019 2019
dbSNP: rs387907352
rs387907352 		1.000 7 2944529 missense variant C/T snv
CUI: C4551967
Disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY 		0.800 0
dbSNP: rs1554271741
rs1554271741 		0.925 7 2919373 stop gained G/A snv
CUI: C4551967
Disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY 		0.700 0
dbSNP: rs571517554
rs571517554 		1.000 7 2944528 missense variant C/T snv
CUI: C4551967
Disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY 		0.700 0
dbSNP: rs794729673
rs794729673 		1.000 7 2947649 missense variant C/T snv
CUI: C4551967
Disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY 		0.700 0