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: rs886037936
rs886037936
EML1
1 1.000 14 99897194 missense variant A/G snv 0.800 1.000 2 2014 2017
dbSNP: rs886037937
rs886037937
EML1
1 1.000 14 99894754 missense variant T/C snv 0.800 1.000 2 2014 2017
dbSNP: rs1555404109
rs1555404109
EML1
1 1.000 14 99914251 stop gained C/T snv 0.700 0
dbSNP: rs886037935
rs886037935
EML1
1 1.000 14 99878513 stop gained C/A;T snv 8.0E-06 0.700 0