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: rs587776450
rs587776450
FASLG
1.000 0.160 1 172659460 frameshift variant T/- delins
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.700 0
dbSNP: rs763110
rs763110
FASLG
0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49
CUI: C2674950
Disease: LUNG CANCER, SUSCEPTIBILITY TO
LUNG CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs80358236
rs80358236
FASLG
1.000 0.120 1 172665642 inframe deletion TGCCTCTGGAATGGGAAGACACCTATGGAATTGTCCTGCTTTCTGGAGTGAAGTATAAGAAGGGTGGCCTTGTGATCAATGAAA/- delins
CUI: C1866120
Disease: Autoimmune Lymphoproliferative Syndrome, Type IB
Autoimmune Lymphoproliferative Syndrome, Type IB 		0.700 0
dbSNP: rs763110
rs763110
FASLG
0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 0.750 4 2009 2015
dbSNP: rs763110
rs763110
FASLG
0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 0.750 4 2009 2015
dbSNP: rs763110
rs763110
FASLG
0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 1.000 3 2013 2016
dbSNP: rs763110
rs763110
FASLG
0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 1.000 3 2013 2016
dbSNP: rs763110
rs763110
FASLG
0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.030 0.667 3 2015 2018
dbSNP: rs111238176
rs111238176
FASLG
0.851 0.160 1 172665840 missense variant A/G snv
CUI: C0002170
Disease: Alopecia
Alopecia 		0.010 1.000 1 2010 2010
dbSNP: rs111238176
rs111238176
FASLG
0.851 0.160 1 172665840 missense variant A/G snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 < 0.001 1 2013 2013
dbSNP: rs111238176
rs111238176
FASLG
0.851 0.160 1 172665840 missense variant A/G snv
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		0.010 1.000 1 2010 2010
dbSNP: rs111238176
rs111238176
FASLG
0.851 0.160 1 172665840 missense variant A/G snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 < 0.001 1 2013 2013
dbSNP: rs5030772
rs5030772
FASLG
0.790 0.320 1 172664210 intron variant A/G snv 9.9E-02
CUI: C1862382
Disease: SVEINSSON CHORIORETINAL ATROPHY
SVEINSSON CHORIORETINAL ATROPHY 		0.010 < 0.001 1 2020 2020
dbSNP: rs5030772
rs5030772
FASLG
0.790 0.320 1 172664210 intron variant A/G snv 9.9E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs5030772
rs5030772
FASLG
0.790 0.320 1 172664210 intron variant A/G snv 9.9E-02
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration 		0.010 1.000 1 2018 2018
dbSNP: rs5030772
rs5030772
FASLG
0.790 0.320 1 172664210 intron variant A/G snv 9.9E-02
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2018 2018
dbSNP: rs5030772
rs5030772
FASLG
0.790 0.320 1 172664210 intron variant A/G snv 9.9E-02
CUI: C0280313
Disease: Squamous cell carcinoma of oropharynx
Squamous cell carcinoma of oropharynx 		0.010 1.000 1 2015 2015
dbSNP: rs5030772
rs5030772
FASLG
0.790 0.320 1 172664210 intron variant A/G snv 9.9E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 2018 2018
dbSNP: rs5030772
rs5030772
FASLG
0.790 0.320 1 172664210 intron variant A/G snv 9.9E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2013 2013
dbSNP: rs530390117
rs530390117
FASLG
0.882 0.240 1 172659460 missense variant T/C snv 3.0E-04 2.1E-05
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma 		0.010 1.000 1 2007 2007
dbSNP: rs530390117
rs530390117
FASLG
0.882 0.240 1 172659460 missense variant T/C snv 3.0E-04 2.1E-05
CUI: C0085077
Disease: Sweet Syndrome
Sweet Syndrome 		0.010 1.000 1 2007 2007
dbSNP: rs530390117
rs530390117
FASLG
0.882 0.240 1 172659460 missense variant T/C snv 3.0E-04 2.1E-05
CUI: C0086981
Disease: Sicca Syndrome
Sicca Syndrome 		0.010 1.000 1 2007 2007
dbSNP: rs763110
rs763110
FASLG
0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		0.010 1.000 1 2018 2018
dbSNP: rs763110
rs763110
FASLG
0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		0.010 1.000 1 2014 2014
dbSNP: rs763110
rs763110
FASLG
0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 1.000 1 2017 2017