Source: BEFREE

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: rs1314714440
rs1314714440
ACOT7
1.000 0.080 1 6349787 missense variant C/T snv 1.6E-05 4.2E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 1.000 2 2006 2013
dbSNP: rs766402526
rs766402526
ACOT7
1.000 0.080 1 6339505 missense variant C/A;T snv 1.2E-05; 8.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 1.000 2 2006 2013
dbSNP: rs769564038
rs769564038
ACOT7
1.000 0.080 1 6339568 missense variant C/T snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 1.000 2 2006 2013
dbSNP: rs1034220998
rs1034220998
ACOT7
1.000 0.040 1 6339497 synonymous variant G/A snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 1.000 1 2017 2017
dbSNP: rs1465262924
rs1465262924
ACOT7
0.925 0.240 1 6281155 missense variant T/G snv
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		0.010 1.000 1 2002 2002
dbSNP: rs1465262924
rs1465262924
ACOT7
0.925 0.240 1 6281155 missense variant T/G snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.010 1.000 1 2002 2002
dbSNP: rs368731455
rs368731455
ACOT7
1.000 0.040 1 6281212 missense variant C/T snv 2.0E-05
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 1.000 1 2017 2017
dbSNP: rs758821654
rs758821654
ACOT7
1.000 0.040 1 6339437 synonymous variant G/A snv 4.0E-06 7.0E-06
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 1.000 1 2017 2017
dbSNP: rs765693356
rs765693356
ACOT7
1.000 0.040 1 6339527 synonymous variant G/A snv 1.2E-05
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 1.000 1 2017 2017
dbSNP: rs772953044
rs772953044
ACOT7
0.925 0.120 1 6333503 missense variant T/C;G snv 4.0E-06; 4.0E-06
CUI: C0342541
Disease: Precocious pubarche
Precocious pubarche 		0.010 1.000 1 2002 2002
dbSNP: rs772953044
rs772953044
ACOT7
0.925 0.120 1 6333503 missense variant T/C;G snv 4.0E-06; 4.0E-06
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		0.010 1.000 1 2002 2002
dbSNP: rs909221872
rs909221872
ACOT7
1 6349856 missense variant G/T snv
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		0.010 1.000 1 2005 2005
dbSNP: rs993269089
rs993269089
ACOT7
1.000 0.040 1 6385564 missense variant A/C;T snv 4.0E-06
CUI: C2747816
Disease: Complicated malaria
Complicated malaria 		0.010 < 0.001 1 2014 2014