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: rs1553265736
rs1553265736
4 0.925 0.040 1 156136080 missense variant G/C snv 0.700 0
dbSNP: rs267607577
rs267607577
2 1 156136352 frameshift variant GCACGCAC/-;GCACGCACGCAC delins 0.700 0
dbSNP: rs397517886
rs397517886
1 1 156136070 missense variant T/C snv 0.700 0
dbSNP: rs397517887
rs397517887
1 1 156136074 inframe deletion ATGGAGATCCACGCC/- delins 0.700 0
dbSNP: rs397517895
rs397517895
1 1 156115072 missense variant C/G snv 0.700 0
dbSNP: rs397517906
rs397517906
3 0.925 0.080 1 156134890 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs397517908
rs397517908
1 1 156134927 frameshift variant C/- delins 0.700 0
dbSNP: rs397517911
rs397517911
1 1 156135239 missense variant C/G snv 0.700 0
dbSNP: rs730880132
rs730880132
1 1 156134875 missense variant T/C snv 0.700 0
dbSNP: rs753988867
rs753988867
1 1 156137180 missense variant C/T snv 2.1E-05 3.5E-05 0.700 0
dbSNP: rs794728602
rs794728602
3 1.000 0.040 1 156115168 missense variant G/A snv 0.700 0
dbSNP: rs876657650
rs876657650
1 1 156130736 frameshift variant A/- del 0.700 0
dbSNP: rs267607581
rs267607581
4 0.925 0.080 1 156137651 splice region variant C/G snv 0.700 1.000 4 1996 2017
dbSNP: rs28933091
rs28933091
4 0.882 0.160 1 156134474 missense variant C/A;G snv 0.710 1.000 5 1999 2007
dbSNP: rs28933092
rs28933092
2 1.000 0.040 1 156134497 missense variant A/G;T snv 0.700 1.000 4 1999 2008
dbSNP: rs61046466
rs61046466
2 1.000 0.120 1 156114934 stop gained C/T snv 0.700 1.000 2 1999 2000
dbSNP: rs397517889
rs397517889
3 0.925 0.120 1 156136093 missense variant C/T snv 7.0E-06 0.700 1.000 14 2000 2014
dbSNP: rs58978449
rs58978449
1 1 156134943 inframe deletion AAG/- delins 0.700 1.000 3 2000 2001
dbSNP: rs267607594
rs267607594
3 0.925 0.120 1 156130745 missense variant T/C snv 0.700 1.000 2 2000 2008
dbSNP: rs397517915
rs397517915
1 1 156135922 frameshift variant C/- del 0.700 1.000 2 2000 2012
dbSNP: rs58917027
rs58917027
2 1.000 0.120 1 156130708 missense variant A/C;G snv 0.700 1.000 2 2000 2011
dbSNP: rs397517909
rs397517909
1 1 156134949 stop gained G/T snv 0.700 1.000 1 2000 2000
dbSNP: rs60682848
rs60682848
11 0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 0.710 1.000 6 2001 2020
dbSNP: rs61195471
rs61195471
6 0.827 0.160 1 156134496 missense variant G/A snv 0.700 1.000 5 2001 2013
dbSNP: rs28933090
rs28933090
3 0.925 0.160 1 156115172 missense variant T/A;G snv 0.010 1.000 1 2001 2001