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: rs63750687
rs63750687
PSEN1
33 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs267608327
rs267608327
MECP2
25 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
dbSNP: rs28934906
rs28934906
MECP2
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
33 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
dbSNP: rs387907260
rs387907260
KCTD7
22 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs587784347
rs587784347
PLA2G6
38 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs61750240
rs61750240
MECP2
19 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
22 0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 0.700 0