Gene: TCTN2 ×
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: rs187433682
rs187433682
TCTN2
1 1.000 0.160 12 123694859 missense variant G/A snv 8.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs201010803
rs201010803
TCTN2
1 1.000 0.160 12 123704670 missense variant T/A;C snv 2.0E-05; 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs201827132
rs201827132
TCTN2
1 1.000 0.160 12 123686884 missense variant G/A;T snv 8.0E-06; 5.2E-05 0.700 1.000 1 2015 2015
dbSNP: rs863225220
rs863225220
TCTN2
1 1.000 0.160 12 123704545 frameshift variant T/- del 4.0E-06 7.1E-06 0.700 1.000 1 2015 2015
dbSNP: rs863225221
rs863225221
TCTN2
1 1.000 0.160 12 123695276 stop gained G/T snv 0.700 1.000 1 2015 2015
dbSNP: rs863225222
rs863225222
TCTN2
2 0.925 0.160 12 123671311 frameshift variant G/-;GG delins 0.700 1.000 1 2015 2015
dbSNP: rs748951253
rs748951253
TCTN2
2 0.925 0.200 12 123673712 frameshift variant C/-;CC delins 8.0E-06 7.0E-06 0.700 0
dbSNP: rs760034947
rs760034947
TCTN2
2 0.925 0.200 12 123679246 frameshift variant -/T delins 7.0E-06 0.700 0
dbSNP: rs786204788
rs786204788
TCTN2
1 1.000 0.160 12 123706833 stop gained T/A;C snv 4.0E-06 0.700 0
dbSNP: rs915737037
rs915737037
TCTN2
2 0.925 0.200 12 123686922 frameshift variant -/CTCTGCTC delins 2.1E-05 0.700 0