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: rs113994152
rs113994152
TSEN54
11 0.790 0.160 17 75522000 missense variant G/T snv 9.0E-04 9.0E-04 0.710 1.000 4 2008 2014
dbSNP: rs1012275384
rs1012275384
TSEN54
2 0.925 0.080 17 75522019 frameshift variant C/- delins 1.4E-05 7.0E-06 0.700 0
dbSNP: rs113994151
rs113994151
CASKIN2 ; TSEN54
2 0.925 0.080 17 75517064 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs113994153
rs113994153
TSEN54
2 0.925 0.080 17 75521817 stop gained C/T snv 0.700 0
dbSNP: rs113994154
rs113994154
TSEN54
2 0.925 0.080 17 75522108 stop gained C/T snv 0.700 0
dbSNP: rs886037629
rs886037629
TSEN54
1 1.000 0.080 17 75522251 frameshift variant AGAGGAGCCAGCGC/- delins 0.700 0