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: rs387907144
rs387907144
34 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
dbSNP: rs796052505
rs796052505
57 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
dbSNP: rs875989800
rs875989800
33 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
dbSNP: rs312262690
rs312262690
28 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
dbSNP: rs387906846
rs387906846
19 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
dbSNP: rs782736894
rs782736894
16 0.827 0.280 17 67975841 missense variant T/C;G snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs879253745
rs879253745
6 0.925 0.240 6 157181040 frameshift variant AA/- delins 0.700 0
dbSNP: rs879253746
rs879253746
6 0.925 0.240 6 157200866 frameshift variant -/T delins 0.700 0
dbSNP: rs879253747
rs879253747
6 0.925 0.240 6 157167101 stop gained C/T snv 0.700 0
dbSNP: rs879253856
rs879253856
6 0.925 0.240 6 157110496 frameshift variant CCG/TCCGCAGCCACTCC delins 0.700 0