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: rs754081544
rs754081544
TWNK ; MRPL43
5 0.925 0.080 10 100988947 missense variant A/G snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs587781262
rs587781262
PRPS1
6 0.882 0.240 X 107640938 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs587781263
rs587781263
PRPS1
5 0.925 0.240 X 107650000 missense variant G/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1554352234
rs1554352234
SLC26A4 ; SLC26A4-AS1
2 1.000 0.120 7 107661723 missense variant A/G snv 0.700 0
dbSNP: rs371544695
rs371544695
SLC26A4 ; SLC26A4-AS1
2 1.000 0.120 7 107661750 stop gained G/C;T snv 2.7E-05 0.700 0
dbSNP: rs1554352676
rs1554352676
SLC26A4 ; SLC26A4-AS1
2 1.000 0.120 7 107663357 missense variant C/T snv 0.700 0
dbSNP: rs1057516953
rs1057516953
SLC26A4 ; SLC26A4-AS1
3 0.925 0.160 7 107663412 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1057518810
rs1057518810
SLC26A4 ; SLC26A4-AS1
1 7 107663430 missense variant T/C snv 1.4E-05 0.700 0
dbSNP: rs111033380
rs111033380
SLC26A4
2 1.000 0.120 7 107674337 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1554355011
rs1554355011
SLC26A4
2 1.000 0.120 7 107674944 splice acceptor variant G/A snv 0.700 0
dbSNP: rs111033242
rs111033242
SLC26A4
3 0.925 0.160 7 107675050 missense variant C/G snv 4.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs111033313
rs111033313
SLC26A4
4 0.925 0.160 7 107683453 splice acceptor variant A/G snv 3.6E-04 1.7E-04 0.700 0
dbSNP: rs786204474
rs786204474
SLC26A4
3 0.925 0.160 7 107689130 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs121908364
rs121908364
SLC26A4
3 0.925 0.160 7 107689166 missense variant C/T snv 0.700 0
dbSNP: rs201562855
rs201562855
SLC26A4
4 0.925 0.160 7 107690148 missense variant A/T snv 4.0E-06 0.700 0
dbSNP: rs147952620
rs147952620
SLC26A4
3 0.925 0.160 7 107690199 missense variant C/T snv 1.6E-05 0.700 0
dbSNP: rs111033305
rs111033305
SLC26A4
4 0.925 0.160 7 107690200 missense variant G/A;C snv 1.0E-04; 8.0E-06 0.700 0
dbSNP: rs111033220
rs111033220
SLC26A4
4 0.925 0.160 7 107690203 missense variant C/G;T snv 4.0E-06; 1.8E-04 0.700 0
dbSNP: rs201660407
rs201660407
SLC26A4
3 0.925 0.160 7 107690236 missense variant A/C;G snv 8.0E-06; 1.2E-05 0.700 0
dbSNP: rs1562835480
rs1562835480
SLC26A4
2 1.000 0.120 7 107694457 stop gained A/T snv 0.700 0
dbSNP: rs111033307
rs111033307
SLC26A4
6 0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05 0.010 1.000 1 2009 2009
dbSNP: rs1284633493
rs1284633493
SLC26A4
2 1.000 0.120 7 107694478 stop gained A/G;T snv 7.0E-06 0.700 0
dbSNP: rs1562835515
rs1562835515
SLC26A4
2 1.000 0.120 7 107694478 frameshift variant A/- delins 0.700 0
dbSNP: rs747076316
rs747076316
SLC26A4
3 0.925 0.160 7 107694622 stop gained C/A;G;T snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs786204601
rs786204601
SLC26A4
3 0.925 0.160 7 107696014 frameshift variant T/- delins 0.700 0