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: 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
dbSNP: rs121913086
rs121913086
FAS
0.925 0.120 10 89014220 missense variant G/T snv
CUI: C1866119
Disease: Autoimmune Lymphoproliferative Syndrome, Type IA
Autoimmune Lymphoproliferative Syndrome, Type IA 		0.700 0
dbSNP: rs1554851718
rs1554851718
FAS
10 89010783 missense variant T/G snv
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.700 0
dbSNP: rs1564686301
rs1564686301
FAS
1.000 0.160 10 89003108 stop gained T/A snv
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.700 0
dbSNP: rs1564691414
rs1564691414
FAS
0.925 0.160 10 89007698 splice acceptor variant A/G snv
CUI: C0018681
Disease: Headache
Headache 		0.700 0
dbSNP: rs1564691414
rs1564691414
FAS
0.925 0.160 10 89007698 splice acceptor variant A/G snv
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		0.700 0
dbSNP: rs1564691414
rs1564691414
FAS
0.925 0.160 10 89007698 splice acceptor variant A/G snv
CUI: C0024031
Disease: Low Back Pain
Low Back Pain 		0.700 0
dbSNP: rs1564691414
rs1564691414
FAS
0.925 0.160 10 89007698 splice acceptor variant A/G snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0
dbSNP: rs1564691414
rs1564691414
FAS
0.925 0.160 10 89007698 splice acceptor variant A/G snv
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		0.700 0
dbSNP: rs1564691414
rs1564691414
FAS
0.925 0.160 10 89007698 splice acceptor variant A/G snv
CUI: C3808022
Disease: Episodic abdominal pain
Episodic abdominal pain 		0.700 0
dbSNP: rs1564691414
rs1564691414
FAS
0.925 0.160 10 89007698 splice acceptor variant A/G snv
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.700 0
dbSNP: rs1564696849
rs1564696849
FAS
0.925 0.160 10 89012082 splice donor variant G/A snv
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		0.700 0
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C2674950
Disease: LUNG CANCER, SUSCEPTIBILITY TO
LUNG CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs267607122
rs267607122
FAS
1.000 0.120 10 89012083 splice donor variant T/A;C snv
CUI: C1866119
Disease: Autoimmune Lymphoproliferative Syndrome, Type IA
Autoimmune Lymphoproliferative Syndrome, Type IA 		0.700 0