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: rs200691042
rs200691042
4 0.851 0.080 2 61839695 stop gained T/A snv 2.8E-04 2.9E-04 0.700 1.000 3 2010 2015
dbSNP: rs767414973
rs767414973
2 0.925 0.080 2 61839503 frameshift variant A/- del 6.4E-05 4.2E-05 0.700 1.000 3 2014 2015
dbSNP: rs202193201
rs202193201
3 0.925 0.080 2 61839437 stop gained G/A;C;T snv 4.8E-05; 1.8E-04 0.700 1.000 2 2010 2015
dbSNP: rs397704718
rs397704718
2 0.925 0.080 2 61839648 frameshift variant GT/- delins 7.0E-05 0.700 1.000 2 2010 2014
dbSNP: rs267606793
rs267606793
1 1.000 2 61836075 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs267606794
rs267606794
1 1.000 2 61840319 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs748847284
rs748847284
1 1.000 2 61840157 stop gained G/A;C snv 2.4E-05 0.700 0