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: rs202128397
rs202128397
3 0.882 0.080 9 123370935 missense variant C/T snv 1.2E-05 0.710 1.000 1 2018 2018
dbSNP: rs879255251
rs879255251
2 0.925 0.080 9 123373609 frameshift variant GGCCCGGCGCGGCCCC/-;GGCCCGGCGCGGCCCCGGCCCGGCGCGGCCCC delins 0.700 0