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: rs104894393
rs104894393
FGF14
2 0.925 0.120 13 101726785 missense variant A/G snv 0.800 1.000 2 2003 2010
dbSNP: rs1555370787
rs1555370787
FGF14
1 1.000 0.080 13 101726690 stop gained T/A snv 0.700 0
dbSNP: rs587776685
rs587776685
FGF14
1 1.000 0.080 13 101726732 frameshift variant T/- del 0.700 0