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: rs80358206
rs80358206
SMIM12 ; GJB4 ; LOC105378642
2 0.925 0.080 1 34761665 missense variant C/A;T snv 1.7E-04 0.800 0
dbSNP: rs80358210
rs80358210
SMIM12 ; GJB4 ; LOC105378642
1 1.000 1 34761507 missense variant A/C snv 0.800 0
dbSNP: rs80358211
rs80358211
SMIM12 ; GJB4 ; LOC105378642
2 0.925 0.080 1 34761289 missense variant G/A snv 0.800 0
dbSNP: rs80358212
rs80358212
SMIM12 ; GJB4 ; LOC105378642
1 1.000 1 34761319 missense variant G/A;T snv 6.8E-05; 4.0E-06 0.800 0
dbSNP: rs80358213
rs80358213
SMIM12 ; GJB4 ; LOC105378642
1 1.000 1 34761820 missense variant T/A snv 0.800 0
dbSNP: rs80358207
rs80358207
SMIM12 ; GJB4 ; LOC105378642
2 0.925 0.080 1 34761663 missense variant T/C snv 0.700 0