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: rs1194236580
rs1194236580
CLCNKB
2 0.925 0.040 1 16045565 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs745709495
rs745709495
SLC12A3
2 0.925 0.040 16 56872767 missense variant A/G snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs781790886
rs781790886
CLCN5
2 0.925 0.040 X 50086536 missense variant G/A snv 1.3E-04 0.010 1.000 1 2010 2010