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: rs6586163
rs6586163
ACTA2 ; FAS ; FAS-AS1
0.925 0.120 10 88992261 non coding transcript exon variant A/C snv 0.58
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		0.700 1.000 1 2017 2017
dbSNP: rs7069750
rs7069750
FAS
0.807 0.120 10 89002619 non coding transcript exon variant G/C;T snv 0.50
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease 		0.700 1.000 1 2013 2013
dbSNP: rs7069750
rs7069750
FAS
0.807 0.120 10 89002619 non coding transcript exon variant G/C;T snv 0.50
CUI: C3890205
Disease: Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative 		0.700 1.000 1 2013 2013
dbSNP: rs7069750
rs7069750
FAS
0.807 0.120 10 89002619 non coding transcript exon variant G/C;T snv 0.50
CUI: C1384600
Disease: Systemic onset juvenile chronic arthritis
Systemic onset juvenile chronic arthritis 		0.700 1.000 1 2013 2013
dbSNP: rs7069750
rs7069750
FAS
0.807 0.120 10 89002619 non coding transcript exon variant G/C;T snv 0.50
CUI: C3898105
Disease: Oligoarticular Juvenile Idiopathic Arthritis
Oligoarticular Juvenile Idiopathic Arthritis 		0.700 1.000 1 2013 2013
dbSNP: rs7069750
rs7069750
FAS
0.807 0.120 10 89002619 non coding transcript exon variant G/C;T snv 0.50
CUI: C2931171
Disease: Juvenile pauciarticular chronic arthritis
Juvenile pauciarticular chronic arthritis 		0.700 1.000 1 2013 2013
dbSNP: rs7069750
rs7069750
FAS
0.807 0.120 10 89002619 non coding transcript exon variant G/C;T snv 0.50
CUI: C1858558
Disease: Rheumatoid Arthritis, Systemic Juvenile
Rheumatoid Arthritis, Systemic Juvenile 		0.700 1.000 1 2013 2013
dbSNP: rs7897395
rs7897395
FAS ; FAS-AS1
10 88994850 intron variant T/A;C snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs7911226
rs7911226
FAS
10 89009208 intron variant A/G snv 0.32
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs9658736
rs9658736
FAS
10 89004160 intron variant T/C snv 9.4E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9658736
rs9658736
FAS
10 89004160 intron variant T/C snv 9.4E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9658736
rs9658736
FAS
10 89004160 intron variant T/C snv 9.4E-03
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs982764
rs982764
FAS
10 89010241 intron variant T/C snv 0.32
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs121913076
rs121913076
FAS
0.925 0.120 10 89014163 missense variant A/C snv
CUI: C1866119
Disease: Autoimmune Lymphoproliferative Syndrome, Type IA
Autoimmune Lymphoproliferative Syndrome, Type IA 		0.700 0
dbSNP: rs121913077
rs121913077
FAS
1.000 0.120 10 89014259 stop gained C/T snv
CUI: C1866119
Disease: Autoimmune Lymphoproliferative Syndrome, Type IA
Autoimmune Lymphoproliferative Syndrome, Type IA 		0.700 0
dbSNP: rs121913078
rs121913078
FAS
0.925 0.120 10 89008915 missense variant C/T snv 4.0E-06
CUI: C1866119
Disease: Autoimmune Lymphoproliferative Syndrome, Type IA
Autoimmune Lymphoproliferative Syndrome, Type IA 		0.700 0
dbSNP: rs121913080
rs121913080
FAS
0.882 0.160 10 89014191 missense variant G/C snv
CUI: C1866119
Disease: Autoimmune Lymphoproliferative Syndrome, Type IA
Autoimmune Lymphoproliferative Syndrome, Type IA 		0.700 0
dbSNP: rs121913081
rs121913081
FAS
0.925 0.120 10 89014251 missense variant C/T snv
CUI: C1866119
Disease: Autoimmune Lymphoproliferative Syndrome, Type IA
Autoimmune Lymphoproliferative Syndrome, Type IA 		0.700 0
dbSNP: rs121913082
rs121913082
FAS
1.000 0.040 10 89014205 missense variant A/G snv
CUI: C4016044
Disease: SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC
SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC 		0.700 0
dbSNP: rs121913082
rs121913082
FAS
1.000 0.040 10 89014205 missense variant A/G snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.700 0
dbSNP: rs121913083
rs121913083
FAS
1.000 0.040 10 89008907 missense variant A/G snv
CUI: C4016044
Disease: SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC
SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC 		0.700 0
dbSNP: rs121913083
rs121913083
FAS
1.000 0.040 10 89008907 missense variant A/G snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.700 0
dbSNP: rs121913084
rs121913084
FAS
1.000 0.040 10 89010779 missense variant T/C snv
CUI: C4016044
Disease: SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC
SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC 		0.700 0
dbSNP: rs121913084
rs121913084
FAS
1.000 0.040 10 89010779 missense variant T/C snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.700 0
dbSNP: rs121913085
rs121913085
FAS
1.000 0.120 10 89014182 missense variant G/C snv
CUI: C1866119
Disease: Autoimmune Lymphoproliferative Syndrome, Type IA
Autoimmune Lymphoproliferative Syndrome, Type IA 		0.700 0