Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1225178489
rs1225178489
NBN
1 1.000 0.040 8 89970428 missense variant A/C;G snv 4.0E-06 0.020 0.500 2 2003 2007