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: rs4406737
rs4406737
FAS
0.925 0.120 10 88999967 intron variant A/G snv 0.50
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.800 1.000 2 2013 2016
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.800 1.000 1 2014 2014
dbSNP: rs121913076
rs121913076
FAS
0.925 0.120 10 89014163 missense variant A/C snv
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		0.700 1.000 13 1995 2010
dbSNP: rs121913078
rs121913078
FAS
0.925 0.120 10 89008915 missense variant C/T snv 4.0E-06
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		0.700 1.000 13 1995 2010
dbSNP: rs121913079
rs121913079
FAS
1.000 0.120 10 89014137 missense variant A/G snv
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		0.700 1.000 13 1995 2010
dbSNP: rs121913080
rs121913080
FAS
0.882 0.160 10 89014191 missense variant G/C snv
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		0.700 1.000 13 1995 2010
dbSNP: rs121913081
rs121913081
FAS
0.925 0.120 10 89014251 missense variant C/T snv
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		0.700 1.000 13 1995 2010
dbSNP: rs121913086
rs121913086
FAS
0.925 0.120 10 89014220 missense variant G/T snv
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		0.700 1.000 13 1995 2010
dbSNP: rs201072885
rs201072885
FAS
1.000 0.120 10 89014164 missense variant C/A snv 6.0E-05
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		0.700 1.000 13 1995 2010
dbSNP: rs1554852244
rs1554852244
FAS
10 89014158 frameshift variant -/CATG delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 9 1995 2016
dbSNP: rs121913080
rs121913080
FAS
0.882 0.160 10 89014191 missense variant G/C snv
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.700 1.000 3 1999 2011
dbSNP: rs1564696849
rs1564696849
FAS
0.925 0.160 10 89012082 splice donor variant G/A snv
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.700 1.000 3 2000 2012
dbSNP: rs1564699214
rs1564699214
FAS
1.000 0.160 10 89014196 frameshift variant A/- delins
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.700 1.000 3 1999 2013
dbSNP: rs4406737
rs4406737
FAS
0.925 0.120 10 88999967 intron variant A/G snv 0.50
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		0.700 1.000 2 2013 2016
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.700 1.000 1 2016 2016
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.700 1.000 1 2016 2016
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 1.000 1 2016 2016
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		0.700 1.000 1 2014 2014
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.700 1.000 1 2016 2016
dbSNP: rs1926203
rs1926203
ACTA2 ; FAS ; STAMBPL1
0.882 0.160 10 88967577 intron variant C/A snv 0.59
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 1.000 1 2009 2009
dbSNP: rs1926203
rs1926203
ACTA2 ; FAS ; STAMBPL1
0.882 0.160 10 88967577 intron variant C/A snv 0.59
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.700 1.000 1 2009 2009
dbSNP: rs1926203
rs1926203
ACTA2 ; FAS ; STAMBPL1
0.882 0.160 10 88967577 intron variant C/A snv 0.59
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.700 1.000 1 2010 2010
dbSNP: rs2147420
rs2147420
FAS
1.000 0.120 10 88999856 intron variant A/G snv 0.50
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.700 1.000 1 2013 2013
dbSNP: rs6586163
rs6586163
ACTA2 ; FAS ; FAS-AS1
0.925 0.120 10 88992261 non coding transcript exon variant A/C snv 0.58
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.700 1.000 1 2017 2017