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: rs121965021
rs121965021
IDUA
7 0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs886041691
rs886041691
KCNT1
2 0.925 0.080 9 135769982 missense variant A/G snv 0.010 1.000 1 2016 2016