Source: CURATED ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs757978
rs757978
0.851 0.200 2 241431686 missense variant C/A;T snv 4.1E-06; 9.3E-02
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.820 1.000 2 2010 2013
dbSNP: rs1476698
rs1476698
2 241357034 intron variant A/G;T snv
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay
0.800 1.000 2 2013 2017
dbSNP: rs3771570
rs3771570
0.925 0.080 2 241443449 3 prime UTR variant C/T snv 0.11
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.700 1.000 2 2013 2018
dbSNP: rs139354822
rs139354822
2 241405280 non coding transcript exon variant T/C snv 2.1E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2018 2018
dbSNP: rs1476698
rs1476698
2 241357034 intron variant A/G;T snv
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity
0.700 1.000 1 2013 2013
dbSNP: rs1476698
rs1476698
2 241357034 intron variant A/G;T snv
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE
0.700 1.000 1 2013 2013
dbSNP: rs3755397
rs3755397
0.925 0.120 2 241355498 upstream gene variant A/G snv 6.8E-02
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs3755397
rs3755397
0.925 0.120 2 241355498 upstream gene variant A/G snv 6.8E-02
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs3755397
rs3755397
0.925 0.120 2 241355498 upstream gene variant A/G snv 6.8E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2016 2016
dbSNP: rs3755397
rs3755397
0.925 0.120 2 241355498 upstream gene variant A/G snv 6.8E-02
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
0.700 1.000 1 2016 2016
dbSNP: rs3771570
rs3771570
0.925 0.080 2 241443449 3 prime UTR variant C/T snv 0.11
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2013 2013
dbSNP: rs41342147
rs41342147
1.000 0.040 2 241468173 missense variant G/A;T snv 0.11; 8.0E-06
CUI: C0042900
Disease: Vitiligo
Vitiligo
Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs757978
rs757978
0.851 0.200 2 241431686 missense variant C/A;T snv 4.1E-06; 9.3E-02
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs757978
rs757978
0.851 0.200 2 241431686 missense variant C/A;T snv 4.1E-06; 9.3E-02
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs871375
rs871375
2 241482451 intron variant G/A snv 0.66
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019