Gene: GMPPB ×
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: rs142336618
rs142336618
GMPPB
5 0.827 0.120 3 49723648 missense variant C/G snv 4.5E-06; 7.0E-04 5.3E-04 0.010 1.000 1 2015 2015
dbSNP: rs202160208
rs202160208
GMPPB
9 0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04 0.010 1.000 1 2015 2015