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: rs11544238
rs11544238
1 1.000 0.040 12 57476372 missense variant A/C;G snv 0.50; 8.0E-06 0.010 1.000 1 2010 2010