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: rs121912542
rs121912542
1 1.000 0.160 7 27198251 missense variant T/G snv 0.800 1.000 4 2000 2016
dbSNP: rs104894019
rs104894019
1 1.000 0.160 7 27198258 stop gained C/T snv 0.700 0
dbSNP: rs1158254994
rs1158254994
1 1.000 0.160 7 27199671 stop gained G/A;T snv 7.4E-06 0.700 0
dbSNP: rs387906542
rs387906542
1 1.000 0.160 7 27199671 frameshift variant -/AGGACGACGCGGCGGCGGCGGCGGCGGCTGCAGCGGCAGCCGCGGCAGCAGC delins 0.700 0