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: rs13538
rs13538
NAT8 ; ALMS1P1
1.000 0.080 2 73641201 missense variant A/G snv 0.21 0.31
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.800 1.000 2 2013 2016
dbSNP: rs13538
rs13538
NAT8 ; ALMS1P1
1.000 0.080 2 73641201 missense variant A/G snv 0.21 0.31
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.700 1.000 2 2010 2012
dbSNP: rs13538
rs13538
NAT8 ; ALMS1P1
1.000 0.080 2 73641201 missense variant A/G snv 0.21 0.31
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 2 2010 2016
dbSNP: rs13301354
rs13301354
ABCA2 ; FUT7 ; C9orf139
1.000 0.080 9 137030185 3 prime UTR variant T/C snv 0.64
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.700 1.000 1 2011 2011
dbSNP: rs13538
rs13538
NAT8 ; ALMS1P1
1.000 0.080 2 73641201 missense variant A/G snv 0.21 0.31
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2014 2014
dbSNP: rs13538
rs13538
NAT8 ; ALMS1P1
1.000 0.080 2 73641201 missense variant A/G snv 0.21 0.31
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.700 1.000 1 2010 2010
dbSNP: rs375811360
rs375811360
NAT8 ; ALMS1P1
1.000 0.080 2 73643197 intron variant C/G snv
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.700 1.000 1 2018 2018
dbSNP: rs375811360
rs375811360
NAT8 ; ALMS1P1
1.000 0.080 2 73643197 intron variant C/G snv
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.700 1.000 1 2018 2018
dbSNP: rs7048567
rs7048567
ABCA2
1.000 9 137009585 synonymous variant A/G snv 0.68 0.70
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		0.700 1.000 1 2019 2019
dbSNP: rs908832
rs908832
ABCA2
0.851 0.120 9 137018032 missense variant A/C;G snv 0.97 0.96
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.030 1.000 3 2005 2013
dbSNP: rs770030911
rs770030911
ABCA2
1.000 0.080 9 137016400 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2013 2013
dbSNP: rs908832
rs908832
ABCA2
0.851 0.120 9 137018032 missense variant A/C;G snv 0.97 0.96
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.010 < 0.001 1 2006 2006
dbSNP: rs908832
rs908832
ABCA2
0.851 0.120 9 137018032 missense variant A/C;G snv 0.97 0.96
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 < 0.001 1 2006 2006
dbSNP: rs908832
rs908832
ABCA2
0.851 0.120 9 137018032 missense variant A/C;G snv 0.97 0.96
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 < 0.001 1 2006 2006