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: rs1177898071
rs1177898071
PSMC3
3 0.925 0.240 11 47419927 intron variant T/C;G snv 0.700 0
dbSNP: rs1561416879
rs1561416879
ADGRV1
6 0.925 0.200 5 90629308 stop gained C/G snv 0.700 0
dbSNP: rs80338939
rs80338939
GJB2
14 0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03 0.700 0
dbSNP: rs111033186
rs111033186
GJB2
1 1.000 0.120 13 20189125 missense variant C/T snv 9.3E-03 3.5E-03 0.010 1.000 1 2006 2006
dbSNP: rs116840821
rs116840821
GJB1
2 0.925 0.160 X 71224263 stop gained G/A;T snv 0.010 1.000 1 2003 2003