Source: ALL
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: rs1555817157
rs1555817157
ABHD12
16 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
dbSNP: rs374997012
rs374997012
TWNK ; MRPL43
9 0.851 0.280 10 100989114 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs886037832
rs886037832
TWNK ; MRPL43
9 0.851 0.280 10 100988541 frameshift variant T/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1043679457
rs1043679457
ERCC8
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
dbSNP: rs1057518780
rs1057518780
GJB1
8 0.882 0.200 X 71224209 missense variant T/G snv 0.700 0
dbSNP: rs1057518813
rs1057518813
ERCC5 ; BIVM-ERCC5
8 0.790 0.240 13 102873305 frameshift variant CT/- delins 0.700 0
dbSNP: rs121913589
rs121913589
MPZ
7 0.827 0.200 1 161306863 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1445287184
rs1445287184
PTPRQ ; LOC105369867
7 1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05 0.700 0
dbSNP: rs1565942358
rs1565942358
FGD4
5 0.827 0.200 12 32640442 frameshift variant -/A delins 0.700 0
dbSNP: rs28928910
rs28928910
NEFL
11 0.827 0.200 8 24956452 missense variant G/A;T snv 0.700 0
dbSNP: rs864309526
rs864309526
FBLN5
2 0.925 0.120 14 91877555 missense variant G/A snv 0.700 0
dbSNP: rs864321670
rs864321670
ALDH18A1
24 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
dbSNP: rs879253979
rs879253979
DYNC1H1
4 0.925 0.120 14 101979951 missense variant C/G;T snv 0.700 0
dbSNP: rs1171462240
rs1171462240
MTMR2
6 0.851 0.160 11 95849784 stop gained G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs776757548
rs776757548
MTMR2
5 0.882 0.160 11 95847803 stop gained G/A;C snv 8.0E-06; 4.0E-06 0.010 1.000 1 2019 2019