Gene: BEST1 ×
Source: ALL
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: rs199529046
rs199529046
BEST1 ; LOC107984334
2 0.925 0.080 11 61956964 missense variant T/C;G snv 6.8E-05 0.710 1.000 3 2000 2016
dbSNP: rs1565392261
rs1565392261
BEST1 ; LOC107984334
1 1.000 0.080 11 61957445 missense variant T/G snv 0.700 0
dbSNP: rs752521456
rs752521456
FTH1 ; BEST1
1 1.000 0.080 11 61962666 frameshift variant TG/- delins 2.0E-05 0.700 1.000 1 2009 2009