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: rs797045032
rs797045032
CLCN1
11 0.827 0.280 7 143321720 missense variant GG/TC mnv 0.700 0
dbSNP: rs914586984
rs914586984
SCN4A ; LOC105371858
9 1.000 0.120 17 63959275 missense variant G/C;T snv 0.700 0