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: rs1564351388
rs1564351388
STXBP1
4 0.882 0.080 9 127666193 frameshift variant -/T delins 0.700 1.000 1 2016 2016
dbSNP: rs1208636573
rs1208636573
MSTO1 ; LOC105371452
15 0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1553920379
rs1553920379
PPP3CA
27 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
dbSNP: rs622288
rs622288
MSTO1 ; LOC105371452
15 0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 0.700 0