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: rs1565286228
rs1565286228
6 0.807 0.200 11 61766173 frameshift variant GCACCGGGCCCCCCATC/T delins 0.700 0
dbSNP: rs398123009
rs398123009
19 0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs80338945
rs80338945
32 0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 0.700 0