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: rs1057518865
rs1057518865
SCN4A
2 17 63957443 missense variant C/T snv 0.700 0
dbSNP: rs1057518917
rs1057518917
CLCN1
3 0.925 0.120 7 143351633 stop gained C/T snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs149729531
rs149729531
CLCN1
6 0.851 0.200 7 143321432 missense variant C/G snv 1.2E-03 7.5E-04 0.700 0
dbSNP: rs1554436510
rs1554436510
CLCN1
2 7 143331279 missense variant T/C snv 0.700 0
dbSNP: rs1554438441
rs1554438441
CLCN1
5 0.882 0.040 7 143342006 frameshift variant -/TC delins 0.700 0
dbSNP: rs80356690
rs80356690
CLCN1
4 0.882 0.120 7 143330788 missense variant C/G;T snv 1.2E-05 0.700 0
dbSNP: rs914586984
rs914586984
SCN4A ; LOC105371858
9 1.000 0.120 17 63959275 missense variant G/C;T snv 0.700 0