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: rs3737884
rs3737884
0.882 0.160 1 202944076 non coding transcript exon variant C/T snv 7.6E-02
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions
0.010 1.000 1 2014 2014
dbSNP: rs12733285
rs12733285
0.776 0.120 1 202952912 intron variant C/T snv 0.26
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2013 2013
dbSNP: rs1342387
rs1342387
0.776 0.120 1 202945228 intron variant T/C snv 0.53
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2013 2013
dbSNP: rs16850799
rs16850799
1 202950723 intron variant G/A snv 0.20
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2013 2013
dbSNP: rs7539542
rs7539542
0.807 0.200 1 202940846 3 prime UTR variant G/C snv 0.58
Platelet mean volume determination (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs1539355
rs1539355
1.000 0.120 1 202954952 intron variant A/G snv 0.33
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.010 1.000 1 2014 2014
dbSNP: rs1342387
rs1342387
0.776 0.120 1 202945228 intron variant T/C snv 0.53
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 1.000 2 2014 2015
dbSNP: rs12733285
rs12733285
0.776 0.120 1 202952912 intron variant C/T snv 0.26
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 1.000 1 2015 2015
dbSNP: rs7539542
rs7539542
0.807 0.200 1 202940846 3 prime UTR variant G/C snv 0.58
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 1.000 1 2015 2015
dbSNP: rs12733285
rs12733285
0.776 0.120 1 202952912 intron variant C/T snv 0.26
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma
0.010 1.000 1 2011 2011
dbSNP: rs1342387
rs1342387
0.776 0.120 1 202945228 intron variant T/C snv 0.53
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma
0.010 1.000 1 2011 2011
dbSNP: rs7539542
rs7539542
0.807 0.200 1 202940846 3 prime UTR variant G/C snv 0.58
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.010 < 0.001 1 2020 2020
dbSNP: rs7539542
rs7539542
0.807 0.200 1 202940846 3 prime UTR variant G/C snv 0.58
CUI: C1399793
Disease: skin fold (abnormality)
skin fold (abnormality)
0.010 1.000 1 2006 2006
dbSNP: rs12733285
rs12733285
0.776 0.120 1 202952912 intron variant C/T snv 0.26
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 1.000 1 2015 2015
dbSNP: rs1342387
rs1342387
0.776 0.120 1 202945228 intron variant T/C snv 0.53
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 1.000 1 2015 2015