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: rs121912617
rs121912617
SSPN ; BHLHE41
1 1.000 0.120 12 26122364 missense variant G/A;C;T snv 1.8E-04 0.010 1.000 1 2009 2009