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
5 0.851 0.080 2 61839695 stop gained T/A snv 2.8E-04 2.9E-04 0.700 1.000 6 2010 2019
dbSNP: rs767414973
rs767414973
2 0.925 0.080 2 61839503 frameshift variant A/- del 6.4E-05 4.2E-05 0.700 1.000 1 2019 2019
dbSNP: rs1178184685
rs1178184685
1 1.000 0.080 2 61840222 frameshift variant T/- del 4.0E-06 0.700 0
dbSNP: rs1553354861
rs1553354861
1 1.000 0.080 2 61840323 frameshift variant CTTC/- delins 0.700 0
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 0
dbSNP: rs397704718
rs397704718
2 0.925 0.080 2 61839648 frameshift variant GT/- delins 7.0E-05 0.700 0
dbSNP: rs777678022
rs777678022
1 1.000 0.080 2 61840001 stop gained G/A snv 1.2E-05 3.5E-05 0.700 0