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: rs1135401927
rs1135401927
4 0.882 0.200 13 32376691 frameshift variant -/A delins 0.700 0
dbSNP: rs690016538
rs690016538
2 0.925 0.080 13 32331022 frameshift variant -/A delins 0.700 0
dbSNP: rs879255327
rs879255327
2 0.925 0.080 13 32333296 frameshift variant -/A delins 0.700 0
dbSNP: rs483353122
rs483353122
4 0.851 0.200 13 32363410 frameshift variant -/AG ins 0.010 1.000 1 2019 2019
dbSNP: rs730881619
rs730881619
4 0.882 0.200 13 32398403 frameshift variant -/ATTT delins 0.700 0
dbSNP: rs886040340
rs886040340
4 0.882 0.080 13 32319111 frameshift variant -/C delins 0.010 1.000 1 2017 2017
dbSNP: rs587779364
rs587779364
4 0.882 0.200 13 32339717 frameshift variant -/C delins 0.700 0
dbSNP: rs730881612
rs730881612
1 1.000 0.080 13 32355233 frameshift variant -/G ins 0.700 0
dbSNP: rs730881601
rs730881601
2 0.925 0.080 13 32329480 frameshift variant -/GATA delins 0.700 0
dbSNP: rs730881611
rs730881611
2 0.925 0.080 13 32340621 frameshift variant -/GCAT delins 0.700 0
dbSNP: rs690016540
rs690016540
2 0.925 0.080 13 32337642 frameshift variant -/T delins 0.700 0
dbSNP: rs754611265
rs754611265
4 0.882 0.200 13 32346886 frameshift variant -/T delins 7.0E-06 0.700 0
dbSNP: rs80359380
rs80359380
5 0.851 0.200 13 32337618 frameshift variant -/T;TT delins 0.700 0
dbSNP: rs864622401
rs864622401
4 0.882 0.200 13 32339092 frameshift variant -/TG delins 0.700 0
dbSNP: rs397515636
rs397515636
4 0.882 0.200 13 32338329 frameshift variant -/TGCT delins 0.700 0
dbSNP: rs80359266
rs80359266
3 0.882 0.200 13 32332668 stop gained -/TTAG ins 0.700 0
dbSNP: rs1555281715
rs1555281715
1 1.000 0.080 13 32332537 frameshift variant A/- del 0.700 0
dbSNP: rs690016541
rs690016541
2 0.925 0.080 13 32337647 frameshift variant A/- delins 0.700 0
dbSNP: rs80359401
rs80359401
4 0.882 0.200 13 32338070 frameshift variant A/- delins 0.700 0
dbSNP: rs869320799
rs869320799
4 0.882 0.200 13 32379492 frameshift variant A/- del 0.700 0
dbSNP: rs879255328
rs879255328
2 0.925 0.080 13 32339122 frameshift variant A/- delins 0.700 0
dbSNP: rs886040494
rs886040494
2 0.925 0.080 13 32338094 frameshift variant A/- del 0.700 0
dbSNP: rs80359301
rs80359301
3 0.882 0.200 13 32333228 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs80359770
rs80359770
5 0.851 0.200 13 32332429 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs144848
rs144848
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.100 0.923 13 2000 2017