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: rs2234962
rs2234962
3 1.000 0.040 10 119670121 missense variant T/C snv 0.17 0.15 0.800 1.000 1 2011 2011
dbSNP: rs397516881
rs397516881
7 0.827 0.120 10 119676917 missense variant G/A snv 0.710 1.000 4 2011 2017
dbSNP: rs869248137
rs869248137
4 0.882 0.120 10 119676479 stop gained C/A;T snv 4.0E-06 0.700 1.000 4 2011 2014
dbSNP: rs387906875
rs387906875
3 0.925 0.080 10 119670037 stop gained C/T snv 8.0E-06 0.700 1.000 3 2011 2015
dbSNP: rs727505109
rs727505109
2 1.000 10 119676617 frameshift variant C/- delins 0.700 1.000 2 2011 2011
dbSNP: rs1554875409
rs1554875409
1 10 119651752 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1564773559
rs1564773559
1 10 119669920 frameshift variant -/TGTGTAC delins 0.700 0
dbSNP: rs727502897
rs727502897
1 10 119651742 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs727505283
rs727505283
1 10 119651774 frameshift variant ACCGGCTG/- delins 0.700 0
dbSNP: rs730880055
rs730880055
1 10 119676851 stop gained C/T snv 0.700 0
dbSNP: rs869025365
rs869025365
1 10 119672657 splice donor variant G/A snv 0.700 0
dbSNP: rs876657634
rs876657634
3 0.925 0.080 10 119672477 stop gained C/T snv 0.700 0