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: rs369698072
rs369698072
NBAS
2 0.925 0.040 2 15238670 missense variant C/A;T snv 2.8E-05 0.010 1.000 1 2017 2017