Gene: SHANK2 ×
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: rs1565527302
rs1565527302
SHANK2
1 1.000 0.040 11 70485988 frameshift variant TG/- del 0.700 1.000 1 2019 2019
dbSNP: rs11236697
rs11236697
SHANK2
1 1.000 0.040 11 70576391 intron variant T/C snv 4.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs61887413
rs61887413
SHANK2
1 1.000 0.040 11 71194938 intron variant T/C snv 9.2E-02 0.010 1.000 1 2018 2018
dbSNP: rs74336682
rs74336682
SHANK2
1 1.000 0.040 11 70586855 intron variant A/G snv 5.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs76717360
rs76717360
SHANK2
1 1.000 0.040 11 70525214 intron variant C/T snv 2.9E-03 0.010 1.000 1 2018 2018
dbSNP: rs77716438
rs77716438
SHANK2
1 1.000 0.040 11 71216711 intron variant G/A snv 1.8E-02 0.010 1.000 1 2018 2018