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: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2011 2011
dbSNP: rs2297950
rs2297950
CHIT1
3 0.882 0.200 1 203225058 missense variant C/T snv 0.31 0.30 0.010 < 0.001 1 2019 2019