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: rs550944082
rs550944082
POGLUT1
1 1.000 0.120 3 119486893 missense variant T/C;G snv 8.0E-06 0.700 1.000 1 2016 2016