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: rs1164484724
rs1164484724
13 0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1559470315
rs1559470315
26 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
dbSNP: rs796052505
rs796052505
57 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0