Gene: CASQ2 ×
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: rs4073778
rs4073778
CASQ2
1 1.000 0.080 1 115755137 intron variant C/A snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs4484922
rs4484922
CASQ2
1 1.000 0.080 1 115768197 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs749547712
rs749547712
CASQ2
3 0.882 0.080 1 115768444 missense variant C/T snv 1.2E-05 0.010 1.000 1 2018 2018