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: rs1085307051
rs1085307051
MEF2C ; MEF2C-AS1
5 0.925 0.160 5 88883309 5 prime UTR variant GAGGAGGAGGAAGA/- del 0.700 0
dbSNP: rs1555910162
rs1555910162
SHANK3
5 0.925 0.080 22 50721469 frameshift variant -/C delins 0.700 0
dbSNP: rs57095329
rs57095329
MIR3142HG
25 0.677 0.480 5 160467840 intron variant A/G snv 7.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs63750424
rs63750424
MAPT
30 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 0.010 1.000 1 1999 1999