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: rs1553122926
rs1553122926
DHDDS
2 0.925 1 26457880 missense variant G/A snv 0.800 1.000 1 2017 2017
dbSNP: rs1553121073
rs1553121073
DHDDS
1 1.000 1 26438214 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs147394623
rs147394623
DHDDS
4 0.882 0.080 1 26438228 missense variant A/G snv 2.3E-04 1.5E-04 0.700 0