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: rs199506378
rs199506378
NPHS2 ; AXDND1
2 0.925 0.080 1 179551435 missense variant G/A;T snv 4.0E-06 0.700 1.000 7 2002 2015