Source: ALL

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: rs121964997
rs121964997
HMGCL
1.000 0.080 1 23820532 missense variant C/T snv 2.4E-05 4.2E-05
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.800 1.000 10 1996 2009
dbSNP: rs121964998
rs121964998
HMGCL
1.000 0.080 1 23804441 missense variant C/T snv
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.800 1.000 10 1996 2009
dbSNP: rs727503963
rs727503963
HMGCL
1.000 0.080 1 23808187 missense variant T/C snv 4.0E-06 4.2E-05
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.800 1.000 9 1996 2009
dbSNP: rs121964996
rs121964996
HMGCL
1.000 0.080 1 23817520 missense variant C/G snv 2.8E-05; 4.0E-06 2.1E-05
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 1.000 10 1996 2009
dbSNP: rs1467902610
rs1467902610
HMGCL
1.000 0.080 1 23820529 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 1.000 10 1996 2009
dbSNP: rs1553131940
rs1553131940
HMGCL
1.000 0.080 1 23808277 missense variant C/T snv
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 1.000 10 1996 2009
dbSNP: rs199587895
rs199587895
HMGCL
1.000 0.080 1 23814193 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 1.000 10 1996 2009
dbSNP: rs760106433
rs760106433
HMGCL
1.000 0.080 1 23808283 missense variant G/T snv 1.2E-05
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 1.000 10 1996 2009
dbSNP: rs765475941
rs765475941
HMGCL
1.000 0.080 1 23810776 missense variant C/T snv 4.0E-06
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 1.000 10 1996 2009
dbSNP: rs763494292
rs763494292
HMGCL
0.925 0.080 1 23820545 stop gained C/A snv 4.8E-05 6.3E-05
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 1.000 7 1997 2017
dbSNP: rs786205431
rs786205431
GALE ; HMGCL
1.000 0.080 1 23802526 frameshift variant AA/- delins 4.0E-06
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 1.000 4 1998 2009
dbSNP: rs1409716731
rs1409716731
HMGCL ; LOC105376861
1.000 0.080 1 23825389 frameshift variant C/- del 2.1E-05
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 1.000 2 2003 2017
dbSNP: rs1212444447
rs1212444447
HMGCL ; LOC105376861
1.000 0.080 1 23825385 stop gained G/A snv 1.2E-05
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 1.000 1 2017 2017
dbSNP: rs6424115
rs6424115
HMGCL ; LOC105376861
1 23826741 intron variant A/G;T snv
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs752137615
rs752137615
HMGCL
1.000 0.080 1 23817521 frameshift variant AG/- delins 1.4E-05
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 1.000 1 1993 1993
dbSNP: rs764264834
rs764264834
HMGCL
1.000 0.080 1 23810791 frameshift variant GA/- delins 1.2E-05 7.0E-06
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 1.000 1 2013 2013
dbSNP: rs770225915
rs770225915
HMGCL
1.000 0.080 1 23820533 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 1.000 1 1998 1998
dbSNP: rs890995574
rs890995574
HMGCL
1.000 0.080 1 23816737 stop gained G/A snv
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 1.000 1 2001 2001
dbSNP: rs112508527
rs112508527
HMGCL
1.000 0.080 1 23810769 stop gained A/C;G;T snv 7.6E-05; 4.0E-06
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 0
dbSNP: rs1184002840
rs1184002840
HMGCL
1.000 0.080 1 23816737 frameshift variant G/- del 4.0E-06
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 0
dbSNP: rs1302190999
rs1302190999
HMGCL ; LOC105376861
1.000 0.080 1 23825413 start lost C/A snv
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 0
dbSNP: rs1324641233
rs1324641233
HMGCL ; LOC105376861
1.000 0.080 1 23825355 splice donor variant C/A;G snv 6.3E-06
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 0
dbSNP: rs1357942068
rs1357942068
HMGCL
1.000 0.080 1 23817503 missense variant G/C;T snv
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 0
dbSNP: rs1425615804
rs1425615804
HMGCL
1.000 0.080 1 23804413 stop gained A/T snv 7.0E-06
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 0
dbSNP: rs1553131955
rs1553131955
HMGCL
1.000 0.080 1 23808325 splice acceptor variant T/C snv
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 0