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: rs387906651
rs387906651
3 0.925 0.080 14 65093782 stop gained G/A snv 0.700 1.000 4 2011 2017
dbSNP: rs387906650
rs387906650
MAX
3 0.925 0.080 14 65077985 stop gained G/A snv 8.0E-06 0.700 1.000 2 2011 2013
dbSNP: rs876659610
rs876659610
MAX
1 14 65077996 missense variant A/T snv 0.700 1.000 2 2003 2012
dbSNP: rs786203385
rs786203385
MAX
2 1.000 14 65077912 splice donor variant C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs1555343169
rs1555343169
1 14 65093780 frameshift variant -/C delins 0.700 0
dbSNP: rs387906649
rs387906649
MAX
3 0.925 0.040 14 65102339 start lost T/C snv 0.700 0
dbSNP: rs587781931
rs587781931
MAX
1 14 65077974 frameshift variant -/T delins 0.700 0
dbSNP: rs786203009
rs786203009
1 14 65093706 splice donor variant A/T snv 0.700 0
dbSNP: rs876660073
rs876660073
MAX
1 14 65076639 stop gained G/T snv 0.700 0