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: rs1057518940
rs1057518940
RYR1
4 0.925 0.040 19 38499718 missense variant G/A snv 0.700 0
dbSNP: rs775011495
rs775011495
GLDN
5 0.925 0.040 15 51404403 stop gained G/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs587777129
rs587777129
ECEL1
2 1.000 2 232480203 missense variant A/G snv 7.0E-06 0.010 1.000 1 2017 2017