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: rs786204708
rs786204708
NPHS2
2 0.925 0.080 1 179561287 splice donor variant A/T snv 0.700 1.000 2 2004 2014