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: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.020 0.500 2 2015 2017
dbSNP: rs374628070
rs374628070
FOLR3
2 1.000 0.080 11 72139145 missense variant G/A snv 7.7E-05 2.6E-04 0.010 < 0.001 1 2017 2017