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: rs878854401
rs878854401
TBL1XR1
1 1.000 3 177047518 missense variant T/C snv 0.800 1.000 4 2012 2016
dbSNP: rs786205859
rs786205859
TBL1XR1
1 1.000 3 177051722 missense variant C/T snv 0.800 0
dbSNP: rs1135401760
rs1135401760
TBL1XR1
1 1.000 3 177038383 missense variant C/A snv 0.700 0
dbSNP: rs1553808301
rs1553808301
TBL1XR1
2 0.925 0.160 3 177033051 missense variant A/C;G snv 0.700 0
dbSNP: rs1553810255
rs1553810255
TBL1XR1
2 0.925 0.160 3 177038386 missense variant C/T snv 0.700 0
dbSNP: rs1553813646
rs1553813646
TBL1XR1
1 1.000 3 177046179 frameshift variant -/T delins 0.700 0