Source: CURATED

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: rs1260326
rs1260326
GCKR
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.800 1.000 6 2013 2019
dbSNP: rs653178
rs653178
ATXN2
0.672 0.600 12 111569952 intron variant C/T snv 0.67
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2013 2013
dbSNP: rs780094
rs780094
GCKR
0.658 0.400 2 27518370 intron variant T/C snv 0.67
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs10774625
rs10774625
ATXN2
0.763 0.320 12 111472415 intron variant A/G snv 0.66
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs11755724
rs11755724
RREB1
0.807 0.320 6 7118757 intron variant A/G;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs3757387
rs3757387
IRF5
0.851 0.280 7 128936032 upstream gene variant T/C snv 0.38
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs4625
rs4625
DAG1
0.716 0.280 3 49534707 3 prime UTR variant A/G snv 0.30
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs780093
rs780093
GCKR
0.763 0.240 2 27519736 intron variant T/C snv 0.68
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 3 2017 2019
dbSNP: rs17696736
rs17696736
NAA25
0.827 0.240 12 112049014 intron variant A/G snv 0.30
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs2079742
rs2079742
BCAS3
0.851 0.240 17 61388336 non coding transcript exon variant T/C snv 0.20
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs334
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs497309
rs497309
C2 ; CYP21A2
0.882 0.240 6 31924707 intron variant A/C;G snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs9895661
rs9895661
BCAS3
0.882 0.200 17 61379228 non coding transcript exon variant C/T snv 0.69
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 9 2016 2019
dbSNP: rs881858
rs881858
LOC105375069 ; LOC107986598
0.882 0.200 6 43838872 intron variant G/A;C snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 6 2016 2019
dbSNP: rs1047891
rs1047891
CPS1
0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 5 2017 2019
dbSNP: rs12917707
rs12917707
UMOD
0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.800 1.000 2 2013 2016
dbSNP: rs13333226
rs13333226
UMOD
0.827 0.200 16 20354332 intron variant A/G snv 0.23
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2018 2018
dbSNP: rs1394125
rs1394125
UBE2Q2
0.882 0.200 15 75866642 intron variant G/A;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2016 2016
dbSNP: rs143709408
rs143709408
KCNQ1
0.882 0.200 11 2527999 missense variant C/T snv 1.6E-04 3.6E-04
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2018 2018
dbSNP: rs35789010
rs35789010
CARMIL1
0.851 0.200 6 25513951 intron variant G/A snv 4.1E-02
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs4014195
rs4014195 		0.882 0.200 11 65739351 intergenic variant C/G snv 0.31
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2016 2016
dbSNP: rs2472297
rs2472297 		0.882 0.160 15 74735539 intergenic variant C/T snv 0.16
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 2 2019 2019
dbSNP: rs807624
rs807624 		1.000 0.160 2 15642347 regulatory region variant G/T snv 0.47
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 2 2019 2019
dbSNP: rs8091180
rs8091180
NFATC1
1.000 0.160 18 79404243 intron variant G/A snv 0.46
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 2 2016 2019