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: rs104893834
rs104893834
DMP1
2 0.925 0.200 4 87656493 start lost A/G;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121965021
rs121965021
IDUA
7 0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05 0.010 1.000 1 2014 2014