Gene: ARSB ×
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: rs118203941
rs118203941
ARSB
3 0.882 0.160 5 78781974 missense variant C/T snv 2.4E-05 2.1E-05 0.700 1.000 3 1992 2007
dbSNP: rs118203943
rs118203943
ARSB
2 0.925 0.160 5 78964477 missense variant T/C snv 2.7E-04 1.7E-04 0.700 1.000 3 2007 2013
dbSNP: rs766914147
rs766914147
ARSB
2 0.925 0.160 5 78969078 frameshift variant C/- delins 2.0E-05 7.0E-06 0.700 1.000 2 2005 2007
dbSNP: rs1561197425
rs1561197425
ARSB
1 1.000 0.120 5 78985019 frameshift variant GCCGCCAGCGCG/C delins 0.700 1.000 1 1996 1996