Source: CURATED ×
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: rs397514705
rs397514705
SHANK3
1 1.000 0.080 22 50678666 missense variant C/G snv 0.800 1.000 3 2013 2013
dbSNP: rs1057519395
rs1057519395
SHANK3
2 1.000 0.080 22 50721861 frameshift variant TG/- delins 0.700 0
dbSNP: rs1057519406
rs1057519406
SHANK3
2 1.000 0.080 22 50684651 missense variant G/T snv 0.700 0
dbSNP: rs1396379503
rs1396379503
SHANK3
1 1.000 0.080 22 50715048 splice donor variant G/A snv 7.0E-06 0.700 0
dbSNP: rs1555910143
rs1555910143
SHANK3
2 0.925 0.120 22 50721257 frameshift variant CT/- del 0.700 0
dbSNP: rs1555910162
rs1555910162
SHANK3
5 0.925 0.080 22 50721469 frameshift variant -/C delins 0.700 0
dbSNP: rs1555910212
rs1555910212
SHANK3
1 1.000 0.080 22 50721716 frameshift variant G/- del 0.700 0
dbSNP: rs1569115756
rs1569115756
SHANK3
1 1.000 0.080 22 50721455 frameshift variant G/- delins 0.700 0
dbSNP: rs762292772
rs762292772
SHANK3
4 0.882 0.160 22 50721505 frameshift variant G/-;GG delins 0.700 0