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: rs11540945
rs11540945
ATP1A1
2 0.925 0.080 1 116387415 missense variant T/G snv 0.700 0
dbSNP: rs724160008
rs724160008
ATP1A1
1 1.000 0.080 1 116387401 inframe deletion TCTCAATGTTACTGT/- delins 0.700 0
dbSNP: rs724160009
rs724160009
ATP2B3
1 1.000 0.080 X 153548786 inframe deletion GCTGGT/- delins 0.700 0
dbSNP: rs724160010
rs724160010
ATP1A1
1 1.000 0.080 1 116389679 missense variant T/G snv 0.700 0
dbSNP: rs724160011
rs724160011
ATP2B3
1 1.000 0.080 X 153548789 inframe deletion CTGGTC/- del 0.700 0
dbSNP: rs724160012
rs724160012
ATP2B3
1 1.000 0.080 X 153548790 inframe deletion TCGTGG/- delins 0.700 0