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: rs1554360358
rs1554360358
SLC26A4
3 0.925 0.160 7 107698076 missense variant A/C snv 0.700 0
dbSNP: rs786204739
rs786204739
SLC26A4
3 0.925 0.160 7 107698083 missense variant T/G snv 0.700 0
dbSNP: rs111033312
rs111033312
SLC26A4
4 0.925 0.160 7 107698112 splice donor variant G/A;C;T snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs1554360678
rs1554360678
SLC26A4
2 1.000 0.120 7 107700115 frameshift variant -/T delins 0.700 0
dbSNP: rs763006761
rs763006761
SLC26A4
3 0.925 0.160 7 107700135 missense variant A/G snv 1.6E-05 0.700 0
dbSNP: rs746427774
rs746427774
SLC26A4
2 1.000 0.120 7 107700155 frameshift variant A/-;AA delins 4.0E-06 0.700 0
dbSNP: rs767255075
rs767255075
SLC26A4
1 7 107700161 missense variant T/C;G snv 1.2E-05; 8.0E-06 0.700 0
dbSNP: rs192366176
rs192366176
SLC26A4
4 0.925 0.160 7 107700180 splice region variant G/A snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs1554360816
rs1554360816
SLC26A4
2 1.000 0.120 7 107701069 intron variant TAAGTAACTTGACATTT/- delins 0.700 0
dbSNP: rs200455203
rs200455203
SLC26A4
4 0.925 0.160 7 107701998 missense variant G/C snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs749013429
rs749013429
SLC26A4
2 1.000 0.120 7 107702030 missense variant C/A;T snv 2.4E-05; 4.0E-06 0.700 0
dbSNP: rs111033318
rs111033318
SLC26A4
3 0.925 0.160 7 107702050 missense variant T/A snv 0.700 0
dbSNP: rs1399914687
rs1399914687
SLC26A4
2 1.000 0.120 7 107704370 missense variant T/C;G snv 4.4E-06 0.700 0
dbSNP: rs752807925
rs752807925
SLC26A4
3 0.925 0.160 7 107704382 stop gained C/T snv 1.3E-05 0.700 0
dbSNP: rs1554362735
rs1554362735
SLC26A4
2 1.000 0.120 7 107710069 frameshift variant -/GCTGG delins 0.700 0
dbSNP: rs121908363
rs121908363
SLC26A4
4 0.925 0.160 7 107710126 missense variant C/T snv 5.2E-05 2.8E-05 0.700 0
dbSNP: rs121908362
rs121908362
SLC26A4
5 0.882 0.280 7 107710132 missense variant A/G snv 1.2E-04 3.5E-05 0.700 0
dbSNP: rs1057517303
rs1057517303
SLC26A4
3 0.925 0.160 7 107710192 stop gained T/A;C snv 0.700 0
dbSNP: rs1556445736
rs1556445736
COL4A5
5 0.925 0.200 X 108667167 synonymous variant A/G snv 0.700 0
dbSNP: rs1057519338
rs1057519338
AMMECR1
8 0.882 X 110264571 stop gained G/A snv 0.700 0
dbSNP: rs765498367
rs765498367
AMMECR1 ; LOC105373312
6 0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05 0.700 0
dbSNP: rs776268964
rs776268964
WHRN
2 1.000 0.120 9 114504776 stop gained G/A;C;T snv 1.3E-05 0.700 0
dbSNP: rs35225896
rs35225896
MET
1 7 116700032 missense variant A/G snv 1.6E-03 6.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2011 2012
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2012 2012