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: rs121918329
rs121918329
HIBCH
1.000 0.080 2 190290425 missense variant T/C snv 6.4E-05 1.4E-05
CUI: C0342738
Disease: Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 		0.800 1.000 0 2007 2007
dbSNP: rs121918329
rs121918329
HIBCH
1.000 0.080 2 190290425 missense variant T/C snv 6.4E-05 1.4E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 2007 2015
dbSNP: rs1553505302
rs1553505302
HIBCH
2 190290419 missense variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 2007 2015
dbSNP: rs755786597
rs755786597
HIBCH
2 190252230 stop gained C/A;T snv 8.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 2007 2015
dbSNP: rs143746450
rs143746450
HIBCH
1.000 0.080 2 190246153 splice donor variant C/A;T snv 4.0E-06; 1.6E-05
CUI: C0342738
Disease: Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 		0.700 1.000 2 2007 2015
dbSNP: rs1553499757
rs1553499757
HIBCH
1.000 0.080 2 190244948 missense variant A/T snv
CUI: C0342738
Disease: Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 		0.700 0
dbSNP: rs1553501873
rs1553501873
HIBCH
1.000 2 190261221 missense variant G/A snv
CUI: C4283745
Disease: Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency 		0.700 0
dbSNP: rs1553506164
rs1553506164
HIBCH
1.000 0.080 2 190296820 missense variant T/G snv
CUI: C0342738
Disease: Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 		0.700 0