rs1064797245, ATP1A3

N. diseases: 9
Source: BEFREE ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
CAPOS syndrome
CUI: C1832466
Disease: CAPOS syndrome
3 0.776 0.280 19 41970540 missense variant G/A snv 0.710 1.000 1 2015 2018
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
64 0.776 0.280 19 41970540 missense variant G/A snv 0.020 1.000 2 2017 2018
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 0.776 0.280 19 41970540 missense variant G/A snv 0.020 1.000 2 2017 2018
Alternating hemiplegia of childhood
CUI: C0338488
Disease: Alternating hemiplegia of childhood
4 0.776 0.280 19 41970540 missense variant G/A snv 0.010 1.000 1 2016 2016
Choreoathetosis
CUI: C0085583
Disease: Choreoathetosis
2 0.776 0.280 19 41970540 missense variant G/A snv 0.010 1.000 1 2016 2016
Congenital hypoplasia of adrenal gland
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
13 0.776 0.280 19 41970540 missense variant G/A snv 0.010 1.000 1 2016 2016
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.776 0.280 19 41970540 missense variant G/A snv 0.010 1.000 1 2017 2017
Fever
CUI: C0015967
Disease: Fever
56 0.776 0.280 19 41970540 missense variant G/A snv 0.010 1.000 1 2018 2018
X-linked Adrenal Hypoplasia
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
15 0.776 0.280 19 41970540 missense variant G/A snv 0.010 1.000 1 2016 2016