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: rs36053993
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 1.000 34 2002 2016
dbSNP: rs77931234
rs77931234
ACADM
0.925 0.120 1 75761161 missense variant A/C;G snv 3.3E-03
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.900 1.000 32 1990 2020
dbSNP: rs797044870
rs797044870
CDC42
0.925 1 22086456 missense variant A/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 30 1993 2015
dbSNP: rs797044870
rs797044870
CDC42
0.925 1 22086456 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 30 1993 2015
dbSNP: rs797044916
rs797044916
CDC42
1.000 1 22078546 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 30 1993 2015
dbSNP: rs786205232
rs786205232
KCNA2
0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 28 1991 2017
dbSNP: rs786205232
rs786205232
KCNA2
0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 28 1991 2017
dbSNP: rs886041761
rs886041761
KCNA2
0.925 0.200 1 110603902 missense variant C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 28 1991 2017
dbSNP: rs1553270522
rs1553270522
ZBTB18
1.000 1 244054804 frameshift variant GATGA/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 26 1997 2017
dbSNP: rs1553270522
rs1553270522
ZBTB18
1.000 1 244054804 frameshift variant GATGA/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 26 1997 2017
dbSNP: rs1553270522
rs1553270522
ZBTB18
1.000 1 244054804 frameshift variant GATGA/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 26 1997 2017
dbSNP: rs797044885
rs797044885
ZBTB18
0.925 1 244055156 missense variant A/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 26 1997 2017
dbSNP: rs797044885
rs797044885
ZBTB18
0.925 1 244055156 missense variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 26 1997 2017
dbSNP: rs797044885
rs797044885
ZBTB18
0.925 1 244055156 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 26 1997 2017
dbSNP: rs875989786
rs875989786
ZBTB18
1.000 1 244054957 stop gained C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 26 1997 2017
dbSNP: rs34612342
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 1.000 23 2002 2017
dbSNP: rs36053993
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.700 1.000 23 2002 2014
dbSNP: rs1413339367
rs1413339367
SLC2A1
1 42930661 stop gained G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 21 1991 2016
dbSNP: rs1553156053
rs1553156053
SLC2A1
1.000 1 42929652 stop gained G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 21 1991 2016
dbSNP: rs1553156053
rs1553156053
SLC2A1
1.000 1 42929652 stop gained G/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 21 1991 2016
dbSNP: rs1553156053
rs1553156053
SLC2A1
1.000 1 42929652 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 21 1991 2016
dbSNP: rs397516456
rs397516456
TNNT2
0.827 0.080 1 201365298 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.710 1.000 21 1996 2016
dbSNP: rs587778541
rs587778541
MUTYH
0.925 0.120 1 45331219 inframe deletion CCT/- delins 9.5E-05 2.8E-05
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.700 1.000 20 2003 2015
dbSNP: rs61751392
rs61751392
ABCA4
0.827 0.080 1 94063250 missense variant A/G snv 1.5E-04 1.7E-04
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.700 1.000 19 1998 2017
dbSNP: rs74315294
rs74315294
CPT2
0.851 0.200 1 53202427 missense variant C/T snv 1.4E-03 1.3E-03
CUI: C0342790
Disease: Carnitine palmitoyl transferase 2 deficiency
Carnitine palmitoyl transferase 2 deficiency 		0.720 1.000 19 1989 2017