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: rs779027563
rs779027563
CNTNAP1
58 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs121918467
rs121918467
PTPN11
23 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0