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: rs1191455921
rs1191455921
LMX1B
3 0.925 0.240 9 126693319 missense variant G/A snv 0.020 0.500 2 2014 2017
dbSNP: rs115308424
rs115308424
NPHS1
2 0.925 0.240 19 35849273 missense variant C/T snv 1.4E-03 6.2E-04 0.010 1.000 1 2017 2017