Source: CLINVAR

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: rs28935476
rs28935476
HSD17B10
X 53432110 missense variant G/C snv 5.5E-06 9.5E-06
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.810 1.000 0 2019 2019
dbSNP: rs122461163
rs122461163
HSD17B10 ; RIBC1
X 53431450 missense variant T/C snv
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.800 1.000 0 2003 2017
dbSNP: rs28935475
rs28935475
HSD17B10
X 53432086 missense variant G/A snv
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.800 0
dbSNP: rs587777651
rs587777651
HSD17B10
X 53432347 missense variant T/C snv
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.800 1.000 0 2003 2017
dbSNP: rs62626305
rs62626305
HSD17B10 ; RIBC1
X 53431445 missense variant C/G snv
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.800 1.000 0 2003 2017
dbSNP: rs886041974
rs886041974
HSD17B10 ; RIBC1
X 53431556 missense variant T/C snv
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.800 0
dbSNP: rs122462164
rs122462164
HSD17B10
X 53431819 splice region variant G/T snv
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.700 0
dbSNP: rs886037927
rs886037927
HSD17B10
X 53431801 missense variant G/T snv
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.700 0