Gene: STPG4 ×
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: 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: 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: 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: rs202044972
rs202044972
TTC7A ; STPG4
1 1.000 0.080 2 47073861 missense variant G/A;T snv 2.0E-05 0.700 0