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: rs137854889
rs137854889
31 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs1554617582
rs1554617582
6 0.925 0.080 8 115418427 frameshift variant -/A delins 0.700 0
dbSNP: rs1555154946
rs1555154946
16 0.827 0.120 12 45850644 stop gained C/T snv 0.700 0
dbSNP: rs387906846
rs387906846
19 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
dbSNP: rs765243124
rs765243124
14 0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 0.700 0
dbSNP: rs875989800
rs875989800
33 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
dbSNP: rs886041936
rs886041936
14 0.827 0.120 X 72495210 stop gained G/A snv 0.700 0