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: rs1339847
rs1339847
2 1 247875992 missense variant G/A snv 0.12 0.10 0.700 1.000 1 2016 2016
dbSNP: rs35237755
rs35237755
1 1 247868934 intron variant -/T delins 1.0E-01 0.700 1.000 1 2016 2016
dbSNP: rs3811444
rs3811444
12 1 247876149 missense variant C/T snv 0.31 0.26 0.700 1.000 1 2016 2016
dbSNP: rs3811445
rs3811445
1 1 247876411 synonymous variant A/G snv 0.61 0.60 0.700 1.000 1 2016 2016