Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397514504
rs397514504
SARDH
9 133733963 missense variant C/A;T snv 4.1E-06
CUI: C0268563
Disease: Sarcosinemia
Sarcosinemia 		0.800 1.000 2 1999 2012
dbSNP: rs149481147
rs149481147
SARDH
9 133729820 missense variant G/A snv 1.0E-04 5.6E-05
CUI: C0268563
Disease: Sarcosinemia
Sarcosinemia 		0.800 0