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: rs121908552
rs121908552
SCN4A ; LOC105371858
14 0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs1554436510
rs1554436510
CLCN1
2 7 143331279 missense variant T/C snv 0.700 0
dbSNP: rs797045032
rs797045032
CLCN1
11 0.827 0.280 7 143321720 missense variant GG/TC mnv 0.700 0