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: 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: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 1.000 3 2013 2016
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 1.000 3 2013 2016
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.020 1.000 2 2014 2016
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.020 0.500 2 2015 2018
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.020 < 0.001 2 2014 2017
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.020 < 0.001 2 2014 2017
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.020 < 0.001 2 2014 2017
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2013 2014
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2013 2014
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.020 1.000 2 2010 2012
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.020 1.000 2 2016 2018
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 0.500 2 2013 2014
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 0.500 2 2013 2014
dbSNP: rs370426812
rs370426812
FAS
0.882 0.200 10 89014312 synonymous variant G/A snv 4.0E-05 3.5E-05
CUI: C0015923
Disease: Fetal Alcohol Syndrome
Fetal Alcohol Syndrome 		0.020 1.000 2 2007 2007