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: rs121909197
rs121909197
EYA1
2 0.925 0.040 8 71211215 missense variant T/C snv 0.700 1.000 1 2000 2000
dbSNP: rs121909198
rs121909198
EYA1
2 1.000 0.040 8 71244656 missense variant C/T snv 0.700 1.000 1 2000 2000
dbSNP: rs1060499603
rs1060499603
EYA1
3 0.882 0.040 8 71211239 stop gained C/A snv 0.700 0
dbSNP: rs121909202
rs121909202
EYA1
2 0.925 0.040 8 71244662 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs191838840
rs191838840
EYA1
1 1.000 0.040 8 71299149 missense variant T/C snv 1.6E-05 2.1E-05 0.700 0
dbSNP: rs397517920
rs397517920
EYA1 ; LOC105375894
3 0.882 0.040 8 71199371 missense variant A/G snv 0.700 0
dbSNP: rs606231356
rs606231356
EYA1
1 1.000 0.040 8 71215477 frameshift variant GTTGTTA/- delins 0.700 0
dbSNP: rs121909199
rs121909199
EYA1
3 0.882 0.040 8 71216776 missense variant C/T snv 1.4E-04 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs267598596
rs267598596
KCNQ4
5 0.827 0.120 1 40818164 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs80358273
rs80358273
KCNQ4
3 0.882 0.160 1 40818518 missense variant C/G snv 3.3E-04 1.1E-04 0.010 1.000 1 2018 2018