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: 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 1 2013 2016
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: 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: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.700 1.000 1 2018 2018
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: 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