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: rs1566528711
rs1566528711
GJB2
6 0.851 0.240 13 20189338 missense variant T/C snv 0.700 0
dbSNP: rs1165937383
rs1165937383
GJB2
3 0.925 0.240 13 20189540 frameshift variant -/T delins 2.1E-05 0.030 1.000 3 2004 2009
dbSNP: rs200830749
rs200830749
MPG
2 0.925 0.240 16 79470 missense variant G/C snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs752478137
rs752478137
IL23R ; C1orf141
2 0.925 0.240 1 67168187 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs773946331
rs773946331
TLR2
2 0.925 0.240 4 153702941 missense variant G/A snv 3.6E-05 3.5E-05 0.010 1.000 1 2017 2017