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: rs864622663
rs864622663
SH3TC2
1 1.000 0.080 5 149047930 stop gained G/A snv 4.0E-06; 4.0E-06 1.4E-05 0.700 0
dbSNP: rs864622664
rs864622664
SH3TC2
2 0.925 0.080 5 149010294 frameshift variant C/- delins 7.0E-06 0.700 0
dbSNP: rs878855092
rs878855092
SH3TC2
1 1.000 0.080 5 149027642 frameshift variant TGTTGCTGGACAGAGGCCA/- delins 0.700 0