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: rs763481300
rs763481300
1 1.000 2 173209732 missense variant C/T snv 4.1E-06 2.1E-05 0.700 1.000 2 2017 2019
dbSNP: rs1293675104
rs1293675104
1 1.000 2 173191085 frameshift variant AT/- del 7.0E-06 0.700 0
dbSNP: rs1553576774
rs1553576774
1 1.000 2 173182886 frameshift variant -/T delins 0.700 0
dbSNP: rs1553578407
rs1553578407
1 1.000 2 173191110 stop gained G/A snv 0.700 0