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: rs1057518914
rs1057518914
RPS6KA3
14 0.821 0.143 X 20193547 missense variant G/C snp 0.700 1 2015 2015
dbSNP: rs201439531
rs201439531
CHAT
11 0.821 0.143 10 49664880 missense variant C/G snp 0.700 1 2015 2015
dbSNP: rs140119177
rs140119177
FAM120AOS
7 1.000 0.071 9 93447639 missense variant G/A snp 6.8E-05 2.2E-04 0.700 1 2015 2015
dbSNP: rs141322087
rs141322087
ABCC8
12 0.846 0.143 11 17404552 missense variant C/T snp 1.2E-05 3.2E-05 0.700 1 2015 2015