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: rs752158933
rs752158933
1 1.000 11 62639458 frameshift variant CT/- delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs770519542
rs770519542
2 0.925 11 62630788 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs879255643
rs879255643
2 0.925 11 62626633 missense variant G/A snv 0.700 0
dbSNP: rs886037848
rs886037848
1 1.000 11 62626328 splice donor variant ATTACC/- delins 0.700 0