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: rs397516881
rs397516881
7 0.827 0.120 10 119676917 missense variant G/A snv 0.800 1.000 5 1990 2014
dbSNP: rs387906874
rs387906874
1 1.000 10 119669881 missense variant C/T snv 1.4E-04 7.7E-05 0.800 1.000 3 2011 2011
dbSNP: rs387906876
rs387906876
2 0.925 0.040 10 119676984 missense variant G/A snv 0.800 1.000 3 2011 2011
dbSNP: rs397514507
rs397514507
2 0.925 0.040 10 119676939 missense variant T/C snv 0.800 1.000 3 2011 2011
dbSNP: rs121918312
rs121918312
11 0.776 0.160 10 119672373 missense variant C/A;T snv 0.700 1.000 11 2009 2016
dbSNP: rs397514506
rs397514506
1 1.000 10 119672399 missense variant C/T snv 8.4E-05 4.2E-05 0.700 1.000 3 2011 2011
dbSNP: rs1057517945
rs1057517945
2 0.925 0.080 10 119669938 stop gained C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs387906875
rs387906875
3 0.925 0.080 10 119670037 stop gained C/T snv 8.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs869248137
rs869248137
4 0.882 0.120 10 119676479 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1060502815
rs1060502815
1 1.000 10 119676899 stop gained A/G;T snv 4.0E-06 0.700 0
dbSNP: rs1135402750
rs1135402750
1 1.000 10 119672416 frameshift variant -/T delins 0.700 0
dbSNP: rs117749531
rs117749531
1 1.000 10 119676794 stop gained G/A;T snv 3.5E-04 0.700 0
dbSNP: rs1554877001
rs1554877001
2 0.925 0.080 10 119669932 stop gained C/T snv 0.700 0
dbSNP: rs1554877224
rs1554877224
1 1.000 10 119672353 frameshift variant -/C delins 0.700 0
dbSNP: rs1554877765
rs1554877765
1 1.000 10 119676710 frameshift variant -/C delins 0.700 0
dbSNP: rs1564767043
rs1564767043
2 0.925 0.080 10 119651821 stop gained G/A snv 0.700 0
dbSNP: rs1564773589
rs1564773589
2 0.925 0.080 10 119669946 frameshift variant -/T delins 0.700 0
dbSNP: rs1564774433
rs1564774433
2 0.925 0.080 10 119672284 stop gained C/A snv 0.700 0
dbSNP: rs727505109
rs727505109
2 1.000 10 119676617 frameshift variant C/- delins 0.700 0
dbSNP: rs876657634
rs876657634
3 0.925 0.080 10 119672477 stop gained C/T snv 0.700 0
dbSNP: rs876661342
rs876661342
2 0.925 0.080 10 119672446 stop gained C/A snv 0.700 0