Gene: SH3TC2 ×
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: rs80338933
rs80338933
SH3TC2
9 0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04 0.710 1.000 5 2003 2014
dbSNP: rs1554122541
rs1554122541
SH3TC2
1 1.000 0.080 5 149038339 frameshift variant G/- del 0.700 1.000 1 2014 2014
dbSNP: rs749850181
rs749850181
SH3TC2
1 1.000 0.080 5 149028348 stop gained C/A snv 1.2E-05 0.700 1.000 1 2014 2014
dbSNP: rs864622664
rs864622664
SH3TC2
2 0.925 0.080 5 149010294 frameshift variant C/- delins 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs80338934
rs80338934
SH3TC2
4 0.882 0.080 5 149010272 stop gained G/A snv 4.0E-05 3.5E-05 0.010 1.000 1 2013 2013