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: rs1057518978
rs1057518978
ADNP
3 1.000 0.160 20 50892395 frameshift variant -/T delins 0.700 0
dbSNP: rs121918460
rs121918460
PTPN11
27 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 0
dbSNP: rs935855792
rs935855792
ETHE1
3 0.925 0.240 19 43511436 splice donor variant C/A;G;T snv 8.0E-06 0.700 0