Gene: CAT ×
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: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.020 0.500 2 2006 2018
dbSNP: rs1428168076
rs1428168076
CAT
1 1.000 0.120 11 34452152 missense variant A/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs769217
rs769217
CAT
12 0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22 0.010 < 0.001 1 2006 2006