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: rs137852795
rs137852795
UROC1
1.000 0.080 3 126498141 missense variant G/A snv 4.0E-05 6.3E-05
CUI: C0268514
Disease: Urocanase deficiency
Urocanase deficiency 		0.800 1.000 1 2009 2009
dbSNP: rs137852796
rs137852796
UROC1
1.000 0.080 3 126510712 missense variant A/G snv 2.8E-05 3.5E-05
CUI: C0268514
Disease: Urocanase deficiency
Urocanase deficiency 		0.800 1.000 1 2009 2009
dbSNP: rs1687482
rs1687482
UROC1
3 126496851 intron variant T/G snv 0.72
CUI: C0678909
Disease: Brain Waves
Brain Waves 		0.700 1.000 1 2017 2017
dbSNP: rs190321959
rs190321959
UROC1
3 126504646 intron variant C/T snv 4.8E-04
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs777513
rs777513
UROC1
3 126481303 3 prime UTR variant A/T snv 0.62
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2019 2019
dbSNP: rs137852795
rs137852795
UROC1
1.000 0.080 3 126498141 missense variant G/A snv 4.0E-05 6.3E-05
CUI: C0741270
Disease: Intermittent ataxia
Intermittent ataxia 		0.010 1.000 1 2009 2009