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: rs397515933
rs397515933
1 1.000 0.040 11 47341143 frameshift variant A/- delins 0.700 0
dbSNP: rs397515934
rs397515934
3 0.925 0.080 11 47341140 frameshift variant A/- del 0.700 0
dbSNP: rs397515948
rs397515948
1 1.000 0.040 11 47339358 frameshift variant -/T delins 4.0E-06 0.700 0
dbSNP: rs397515952
rs397515952
1 1.000 0.040 11 47338665 frameshift variant G/- delins 0.700 0
dbSNP: rs397515960
rs397515960
3 0.925 0.080 11 47337791 frameshift variant -/C delins 0.700 0
dbSNP: rs397515969
rs397515969
1 1.000 0.040 11 47337481 stop gained C/A;G;T snv 1.6E-05 0.700 0
dbSNP: rs397515970
rs397515970
2 0.925 0.080 11 47337468 frameshift variant -/A delins 0.700 0
dbSNP: rs397515972
rs397515972
1 1.000 0.040 11 47337457 inframe deletion CGCATCTCG/- delins 0.700 0
dbSNP: rs397515995
rs397515995
1 1.000 0.040 11 47333969 frameshift variant TCTGG/- delins 7.0E-06 0.700 0
dbSNP: rs397515997
rs397515997
1 1.000 0.040 11 47333707 frameshift variant G/- delins 0.700 0
dbSNP: rs397516006
rs397516006
2 0.925 0.080 11 47333291 stop gained C/T snv 0.700 0
dbSNP: rs397516008
rs397516008
2 0.925 0.080 11 47333297 frameshift variant -/A ins 7.0E-06 0.700 0
dbSNP: rs397516010
rs397516010
2 0.925 0.080 11 47333271 stop gained C/A;G snv 0.700 0
dbSNP: rs397516014
rs397516014
2 0.925 0.080 11 47333226 frameshift variant -/C delins 1.4E-05 0.700 0
dbSNP: rs397516019
rs397516019
1 1.000 0.040 11 47332824 frameshift variant -/TAAA delins 8.5E-06 0.700 0
dbSNP: rs397516022
rs397516022
1 1.000 0.040 11 47332704 splice acceptor variant T/A;C;G snv 0.700 0
dbSNP: rs397516023
rs397516023
1 1.000 0.040 11 47350558 frameshift variant G/- delins 0.700 0
dbSNP: rs397516032
rs397516032
1 1.000 0.040 11 47350546 frameshift variant G/- delins 0.700 0
dbSNP: rs397516035
rs397516035
2 0.925 0.080 11 47332192 stop gained T/A snv 0.700 0
dbSNP: rs397516039
rs397516039
1 1.000 0.040 11 47332133 stop gained A/C;G snv 1.0E-04 0.700 0
dbSNP: rs397516044
rs397516044
2 0.925 0.080 11 47331882 splice acceptor variant C/T snv 4.1E-06 0.700 0
dbSNP: rs397516047
rs397516047
1 1.000 0.040 11 47350087 frameshift variant AC/- del 0.700 0
dbSNP: rs397516049
rs397516049
3 0.925 0.080 11 47350082 frameshift variant -/T delins 3.0E-05 7.0E-06 0.700 0
dbSNP: rs397516052
rs397516052
2 0.925 0.080 11 47350060 frameshift variant G/- delins 0.700 0
dbSNP: rs397516056
rs397516056
2 0.925 0.080 11 47349923 splice acceptor variant C/A;G;T snv 0.700 0