Gene: TTC7A ×
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: rs776906926
rs776906926
TTC7A
1 1.000 0.080 2 47024334 missense variant C/T snv 8.2E-06 7.0E-06 0.800 1.000 8 2013 2015
dbSNP: rs876657393
rs876657393
TTC7A ; STPG4
1 1.000 0.080 2 47073840 missense variant G/A snv 7.0E-06 0.800 1.000 8 2013 2015
dbSNP: rs587776972
rs587776972
TTC7A ; STPG4
1 1.000 0.080 2 47073814 missense variant T/C snv 4.0E-06 1.4E-05 0.800 0
dbSNP: rs139010200
rs139010200
TTC7A ; STPG4
1 1.000 0.080 2 47046329 missense variant A/C;G snv 4.0E-06; 2.1E-03 0.700 1.000 8 2013 2015
dbSNP: rs147914967
rs147914967
TTC7A
1 1.000 0.080 2 46950389 missense variant G/A snv 2.0E-05 2.8E-05 0.700 1.000 8 2013 2015
dbSNP: rs149602485
rs149602485
TTC7A ; STPG4
1 1.000 0.080 2 47050043 missense variant T/A;C snv 4.0E-06; 2.1E-03 0.700 1.000 8 2013 2015
dbSNP: rs777469885
rs777469885
TTC7A
1 1.000 0.080 2 46994356 splice acceptor variant G/T snv 7.0E-06 0.700 1.000 4 2013 2015
dbSNP: rs1057516047
rs1057516047
TTC7A ; STPG4
4 0.882 0.120 2 47073816 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs768053395
rs768053395
TTC7A ; STPG4
1 1.000 0.080 2 47073815 frameshift variant -/C delins 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs886042805
rs886042805
TTC7A
5 0.827 0.080 2 46950464 stop gained G/T snv 0.700 1.000 1 2016 2016
dbSNP: rs886042806
rs886042806
TTC7A
5 0.827 0.080 2 47006038 frameshift variant -/C delins 0.700 1.000 1 2016 2016
dbSNP: rs1558568116
rs1558568116
TTC7A
1 1.000 0.080 2 47006687 stop gained G/A snv 0.700 0
dbSNP: rs202044972
rs202044972
TTC7A ; STPG4
1 1.000 0.080 2 47073861 missense variant G/A;T snv 2.0E-05 0.700 0
dbSNP: rs587776971
rs587776971
TTC7A
1 1.000 0.080 2 46994513 splice region variant AAGT/- delins 3.5E-05 0.700 0
dbSNP: rs587777547
rs587777547
TTC7A
1 1.000 0.080 2 46993514 stop gained C/T snv 0.700 0
dbSNP: rs587777548
rs587777548
TTC7A
1 1.000 0.080 2 46995142 stop gained C/G;T snv 8.0E-06 0.700 0
dbSNP: rs587777549
rs587777549
TTC7A
1 1.000 0.080 2 47021948 frameshift variant G/- delins 0.700 0
dbSNP: rs587777550
rs587777550
TTC7A
1 1.000 0.080 2 47029255 frameshift variant -/G ins 0.700 0
dbSNP: rs587777551
rs587777551
TTC7A
1 1.000 0.080 2 47022084 intron variant T/A snv 0.700 0
dbSNP: rs786205698
rs786205698
TTC7A
1 1.000 0.080 2 47024294 stop gained C/T snv 4.1E-06 0.700 0
dbSNP: rs876657392
rs876657392
TTC7A
1 1.000 0.080 2 47006639 splice acceptor variant A/G snv 0.700 0
dbSNP: rs886037746
rs886037746
TTC7A
1 1.000 0.080 2 46978905 splice donor variant G/- delins 0.700 0
dbSNP: rs886037747
rs886037747
TTC7A
1 1.000 0.080 2 46950491 frameshift variant TCTA/- delins 0.700 0