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: rs1057518780
rs1057518780
GJB1
8 0.882 0.200 X 71224209 missense variant T/G snv 0.700 0
dbSNP: rs1057518943
rs1057518943
IGHMBP2
5 1.000 0.120 11 68906163 missense variant G/A;C snv 8.0E-06 0.700 0
dbSNP: rs1057518946
rs1057518946
GJB1
8 0.882 0.080 X 71223816 missense variant G/T snv 0.700 0
dbSNP: rs113812345
rs113812345
FBN1
10 0.790 0.160 15 48513591 stop gained G/A snv 0.700 0
dbSNP: rs137854461
rs137854461
FBN1
12 0.790 0.280 15 48437026 missense variant T/C snv 0.700 0
dbSNP: rs181109321
rs181109321
TTPA
17 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
dbSNP: rs761857514
rs761857514
FBN1
8 0.851 0.240 15 48452676 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs773690764
rs773690764
IGHMBP2
4 11 68917781 stop gained C/T snv 4.0E-06 1.4E-05 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: rs25640
rs25640
HSD17B4
2 5 119475838 missense variant G/A;C snv 0.45 0.010 1.000 1 2001 2001