Source: ALL
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: rs12142240
rs12142240
1 46281629 intron variant T/C snv 0.23
CUI: C1629609
Disease: Age at menopause
Age at menopause
0.700 1.000 1 2015 2015
dbSNP: rs121908689
rs121908689
0.925 0.120 1 46272758 missense variant T/A snv
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121908689
rs121908689
0.925 0.120 1 46272758 missense variant T/A snv
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121908690
rs121908690
0.925 0.080 1 46267540 missense variant G/A snv 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121908690
rs121908690
0.925 0.080 1 46267540 missense variant G/A snv 1.4E-05
CUI: C1527349
Disease: Ductal Breast Carcinoma
Ductal Breast Carcinoma
Neoplasms 0.700 0
dbSNP: rs1048771
rs1048771
1.000 0.040 1 46278228 synonymous variant C/A;T snv 4.0E-06; 0.15
CUI: C0017638
Disease: Glioma
Glioma
Neoplasms 0.010 1.000 1 2016 2016