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: rs1417146153
rs1417146153
SLC26A4
1 1.000 0.120 7 107710131 missense variant C/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1554358720
rs1554358720
SLC26A4
1 1.000 0.120 7 107690135 frameshift variant -/T delins 0.700 0
dbSNP: rs431905518
rs431905518
SLC26A5
2 0.925 0.120 7 103420821 stop gained C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs431905517
rs431905517
SLC26A5
2 0.925 0.120 7 103413015 missense variant T/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1554887097
rs1554887097
TWNK ; MRPL43
10 0.807 0.320 10 100989331 missense variant G/A snv 0.700 0