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: rs200024180
rs200024180
GDF1 ; CERS1
1 1.000 19 18884128 missense variant G/A;C snv 4.9E-05 0.800 1.000 1 2014 2014
dbSNP: rs561672108
rs561672108
GDF1 ; CERS1
1 1.000 19 18893551 stop gained G/A snv 0.700 0