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: rs751829413
rs751829413
1 1.000 0.080 1 75745815 missense variant A/C snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs754359356
rs754359356
1 1.000 0.080 1 75740069 missense variant T/A;C snv 8.0E-06 0.700 0
dbSNP: rs764942250
rs764942250
1 1.000 0.080 1 75734788 splice region variant T/G snv 4.0E-05 0.700 0
dbSNP: rs766140986
rs766140986
1 1.000 0.080 1 75761228 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs766173642
rs766173642
1 1.000 0.080 1 75732899 frameshift variant CA/-;CACA delins 4.0E-06 0.700 0
dbSNP: rs768596219
rs768596219
1 1.000 0.080 1 75724819 splice donor variant T/C;G snv 6.0E-06 0.700 0
dbSNP: rs777998984
rs777998984
1 1.000 0.080 1 75734829 frameshift variant G/- del 1.6E-05 2.8E-05 0.700 0
dbSNP: rs779759347
rs779759347
1 1.000 0.080 1 75750482 missense variant G/C snv 4.0E-06 0.700 0
dbSNP: rs796051896
rs796051896
1 1.000 0.080 1 75761188 stop gained C/G;T snv 0.700 0
dbSNP: rs796051901
rs796051901
1 1.000 0.080 1 75750481 frameshift variant AG/- delins 0.700 0
dbSNP: rs864621963
rs864621963
1 1.000 0.080 1 75733583 inframe deletion GGATGT/- delins 0.700 0
dbSNP: rs866388216
rs866388216
1 1.000 0.080 1 75740111 splice donor variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs875989854
rs875989854
2 0.925 0.160 1 75734798 missense variant C/G;T snv 8.0E-06 0.700 0
dbSNP: rs875989860
rs875989860
1 1.000 0.080 1 75762717 frameshift variant AA/- delins 1.4E-05 0.700 0
dbSNP: rs875989864
rs875989864
1 1.000 0.080 1 75750524 frameshift variant -/T delins 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs875989865
rs875989865
1 1.000 0.080 1 75724782 start lost GCCAACATGGCA/ACCCCGAAGG delins 0.700 0
dbSNP: rs875989867
rs875989867
1 1.000 0.080 1 75749452 missense variant A/G snv 0.700 0
dbSNP: rs875989869
rs875989869
1 1.000 0.080 1 75739979 splice acceptor variant G/A snv 0.700 0
dbSNP: rs875989872
rs875989872
1 1.000 0.080 1 75749525 frameshift variant GCAATGGGAGCTT/- delins 0.700 0
dbSNP: rs875989873
rs875989873
1 1.000 0.080 1 75733560 frameshift variant ATTA/- delins 0.700 0
dbSNP: rs875989874
rs875989874
1 1.000 0.080 1 75761187 stop gained -/TAGAATGAGTTAC delins 0.700 0
dbSNP: rs875989875
rs875989875
1 1.000 0.080 1 75728472 stop gained -/GATTTAG delins 0.700 0
dbSNP: rs875989876
rs875989876
1 1.000 0.080 1 75734867 missense variant T/C snv 1.4E-05 0.700 0
dbSNP: rs875989877
rs875989877
1 1.000 0.080 1 75761364 frameshift variant -/T delins 0.700 0
dbSNP: rs879234543
rs879234543
1 1.000 0.080 1 75762690 splice acceptor variant A/C;T snv 0.700 0