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: rs7206971
rs7206971
EFCAB13
17 47347749 intron variant G/A;T snv 0.47
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 5 2010 2019
dbSNP: rs7206971
rs7206971
EFCAB13
17 47347749 intron variant G/A;T snv 0.47
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 4 2010 2018
dbSNP: rs7206971
rs7206971
EFCAB13
17 47347749 intron variant G/A;T snv 0.47
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2010 2013
dbSNP: rs113600793
rs113600793
EFCAB13
17 47384095 intron variant C/A;T snv
CUI: C2825877
Disease: Interferon Gamma Measurement
Interferon Gamma Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs113600793
rs113600793
EFCAB13
17 47384095 intron variant C/A;T snv
CUI: C2697760
Disease: Interleukin 12 Measurement
Interleukin 12 Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs113600793
rs113600793
EFCAB13
17 47384095 intron variant C/A;T snv
CUI: C3897558
Disease: Soluble Interleukin 6 Receptor Measurement
Soluble Interleukin 6 Receptor Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs1912483
rs1912483
EFCAB13
17 47366128 intron variant A/G snv 0.53
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.700 1.000 1 2019 2019
dbSNP: rs62076505
rs62076505
EFCAB13
17 47420073 intron variant A/C;G snv
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs118004742
rs118004742
EFCAB13
0.925 0.080 17 47391492 stop gained T/G snv 4.4E-02 4.2E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2015 2015
dbSNP: rs118004742
rs118004742
EFCAB13
0.925 0.080 17 47391492 stop gained T/G snv 4.4E-02 4.2E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2015 2015