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: rs749507057
rs749507057
BHLHE22 ; LOC401463
4 0.851 0.120 8 64580966 missense variant C/T snv 0.010 < 0.001 1 2009 2009