Source: GWASCAT

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: rs530685161
rs530685161
22 21597965 intron variant TTTTTTT/-;TTT;TTTT;TTTTT;TTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTTTT delins 0.22
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs5754100
rs5754100
0.882 22 21561877 intron variant T/C snv 0.18
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
0.700 1.000 1 2016 2016
dbSNP: rs7444
rs7444
1.000 0.080 22 21622645 3 prime UTR variant T/C snv 0.32
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 1.000 3 2015 2017
dbSNP: rs2266959
rs2266959
0.776 0.200 22 21568615 intron variant G/T snv 0.18
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.800 1.000 2 2012 2017
dbSNP: rs5754217
rs5754217
0.925 0.120 22 21585386 intron variant G/T snv 0.31
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
0.700 1.000 2 2012 2017
dbSNP: rs131658
rs131658
1.000 0.080 22 21563337 intron variant C/G snv 0.29
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 1.000 1 2017 2017
dbSNP: rs181360
rs181360
22 21574627 intron variant T/G snv 0.21
High density lipoprotein measurement
0.700 1.000 1 2017 2017
dbSNP: rs2266959
rs2266959
0.776 0.200 22 21568615 intron variant G/T snv 0.18
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 1.000 1 2017 2017
dbSNP: rs2283790
rs2283790
0.882 0.120 22 21602364 intron variant A/G snv 0.21
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 1.000 1 2017 2017
dbSNP: rs2283790
rs2283790
0.882 0.120 22 21602364 intron variant A/G snv 0.21
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 1.000 1 2017 2017
dbSNP: rs4820091
rs4820091
22 21585900 intron variant T/G snv 0.30
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
0.700 1.000 1 2017 2017
dbSNP: rs4821116
rs4821116
0.925 0.120 22 21619030 intron variant C/A;T snv 0.18
High density lipoprotein measurement
0.700 1.000 1 2017 2017
dbSNP: rs181362
rs181362
22 21577779 intron variant C/T snv 0.31
CUI: C0040420
Disease: Tonometry
Tonometry
0.700 1.000 1 2018 2018
dbSNP: rs4821116
rs4821116
0.925 0.120 22 21619030 intron variant C/A;T snv 0.18
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
0.820 1.000 1 2013 2018
dbSNP: rs5754102
rs5754102
22 21561983 intron variant C/A snv 0.17
CUI: C0040420
Disease: Tonometry
Tonometry
0.700 1.000 1 2018 2018
dbSNP: rs5754102
rs5754102
22 21561983 intron variant C/A snv 0.17
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2018 2018
dbSNP: rs7444
rs7444
1.000 0.080 22 21622645 3 prime UTR variant T/C snv 0.32
High density lipoprotein measurement
0.700 1.000 1 2018 2018
dbSNP: rs8137950
rs8137950
22 21615351 intron variant T/C;G snv
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
0.700 1.000 1 2018 2018
dbSNP: rs181362
rs181362
22 21577779 intron variant C/T snv 0.31
High density lipoprotein measurement
0.800 1.000 4 2010 2019
dbSNP: rs7445
rs7445
22 21622758 3 prime UTR variant C/G;T snv 0.22
High density lipoprotein measurement
0.700 1.000 2 2018 2019
dbSNP: rs131656
rs131656
22 21563161 intron variant G/A snv 0.20
RDW - Red blood cell distribution width result
0.700 1.000 1 2019 2019
dbSNP: rs131656
rs131656
22 21563161 intron variant G/A snv 0.20
Red cell distribution width determination
0.700 1.000 1 2019 2019
dbSNP: rs5754100
rs5754100
0.882 22 21561877 intron variant T/C snv 0.18
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
0.700 1.000 1 2019 2019
dbSNP: rs5754100
rs5754100
0.882 22 21561877 intron variant T/C snv 0.18
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
0.700 1.000 1 2019 2019
dbSNP: rs5754100
rs5754100
0.882 22 21561877 intron variant T/C snv 0.18
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.700 1.000 1 2019 2019