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: rs28929498
rs28929498
FAS
0.925 0.120 10 89014221 missense variant A/T snv
CUI: C1866119
Disease: Autoimmune Lymphoproliferative Syndrome, Type IA
Autoimmune Lymphoproliferative Syndrome, Type IA 		0.700 0
dbSNP: rs28929498
rs28929498
FAS
0.925 0.120 10 89014221 missense variant A/T snv
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		0.700 0
dbSNP: rs606231361
rs606231361
FAS
1.000 0.120 10 89007732 frameshift variant G/- delins
CUI: C1866119
Disease: Autoimmune Lymphoproliferative Syndrome, Type IA
Autoimmune Lymphoproliferative Syndrome, Type IA 		0.700 0
dbSNP: rs606231362
rs606231362
FAS
1.000 0.120 10 89007838 splice donor variant -/T delins
CUI: C1866119
Disease: Autoimmune Lymphoproliferative Syndrome, Type IA
Autoimmune Lymphoproliferative Syndrome, Type IA 		0.700 0
dbSNP: rs606231363
rs606231363
FAS
1.000 0.120 10 89011997 splice acceptor variant A/C snv
CUI: C1866119
Disease: Autoimmune Lymphoproliferative Syndrome, Type IA
Autoimmune Lymphoproliferative Syndrome, Type IA 		0.700 0
dbSNP: rs606231364
rs606231364
FAS
0.925 0.160 10 89003071 missense variant G/A snv
CUI: C1866119
Disease: Autoimmune Lymphoproliferative Syndrome, Type IA
Autoimmune Lymphoproliferative Syndrome, Type IA 		0.700 0
dbSNP: rs606231364
rs606231364
FAS
0.925 0.160 10 89003071 missense variant G/A snv
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.700 0
dbSNP: rs606231365
rs606231365
FAS
1.000 0.120 10 89014409 frameshift variant -/AAAATTCAAACTTCAGAAAT delins
CUI: C1866119
Disease: Autoimmune Lymphoproliferative Syndrome, Type IA
Autoimmune Lymphoproliferative Syndrome, Type IA 		0.700 0
dbSNP: rs606231366
rs606231366
FAS
1.000 0.120 10 89014134 frameshift variant -/T ins
CUI: C1866119
Disease: Autoimmune Lymphoproliferative Syndrome, Type IA
Autoimmune Lymphoproliferative Syndrome, Type IA 		0.700 0
dbSNP: rs758835365
rs758835365
FAS
1.000 0.120 10 89010795 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.700 0
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: 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: 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: 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
dbSNP: rs1223868338
rs1223868338
ACTA2 ; FAS
0.882 0.040 10 88990884 missense variant G/C snv 7.0E-06
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2007 2007
dbSNP: rs1223868338
rs1223868338
ACTA2 ; FAS
0.882 0.040 10 88990884 missense variant G/C snv 7.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2007 2007
dbSNP: rs1223868338
rs1223868338
ACTA2 ; FAS
0.882 0.040 10 88990884 missense variant G/C snv 7.0E-06
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2007 2007