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: rs1057518083
rs1057518083
DYNC1H1
21 0.851 0.120 14 101986552 missense variant C/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: rs1057518935
rs1057518935
DYNC1H1
1 14 101980418 missense variant T/G snv 0.700 0
dbSNP: rs1202430946
rs1202430946
IGHMBP2
17 0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 0.700 0
dbSNP: rs121908457
rs121908457
MYOT ; LOC101928005
13 0.882 0.120 5 137870815 missense variant C/T snv 0.700 0
dbSNP: rs143003434
rs143003434
SPAST
7 1.000 0.080 2 32098840 missense variant G/A snv 3.2E-05 3.5E-05 0.700 0
dbSNP: rs1553551006
rs1553551006
DYSF
4 1.000 2 71564172 frameshift variant T/- del 0.700 0
dbSNP: rs1555365597
rs1555365597
ATL1
5 0.925 0.040 14 50623194 missense variant C/A snv 0.700 0
dbSNP: rs267607261
rs267607261
MPV17
28 0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs28928910
rs28928910
NEFL
11 0.827 0.200 8 24956452 missense variant G/A;T snv 0.700 0
dbSNP: rs368900406
rs368900406
MPV17
27 0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05 0.700 0