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: rs11167044
rs11167044
8 141294322 intron variant C/T snv 0.84
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs12543725
rs12543725
8 141237880 intron variant G/A snv 0.33
CUI: C0005612
Disease: Birth Weight
Birth Weight
0.700 1.000 1 2016 2016
dbSNP: rs13257363
rs13257363
8 141242481 intron variant G/A snv 0.33
CUI: C0005612
Disease: Birth Weight
Birth Weight
0.700 1.000 1 2019 2019
dbSNP: rs59918340
rs59918340
8 141222157 intron variant A/G snv 0.51
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs6987335
rs6987335
8 141225259 non coding transcript exon variant T/G snv 0.33
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2019 2019
dbSNP: rs6992286
rs6992286
8 141269313 intron variant G/A snv 0.41
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2019 2019
dbSNP: rs7014099
rs7014099
8 141295667 intron variant C/T snv 0.30
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs753778
rs753778
8 141218810 missense variant G/A snv 0.35 0.33
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs919873
rs919873
8 141292161 intron variant C/G;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013