Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12784396
rs12784396
Entrez Id: 55280
Gene Symbol: CWF19L1
CWF19L1
CUI: C1445957
Disease:
Serum total cholesterol measurement 		C 0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs12784396
rs12784396
Entrez Id: 55280
Gene Symbol: CWF19L1
CWF19L1
CUI: C0392885
Disease:
High density lipoprotein measurement 		C 0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs1554902760
rs1554902760
Entrez Id: 55280;677800
Gene Symbol: CWF19L1;SNORA12
CWF19L1;SNORA12
CUI: C4015301
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs587780326
rs587780326
Entrez Id: 55280
Gene Symbol: CWF19L1
CWF19L1
CUI: C4015301
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 		T 0.700 CausalMutation CLINVAR
dbSNP: rs879255653
rs879255653
Entrez Id: 55280
Gene Symbol: CWF19L1
CWF19L1
CUI: C4015301
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 		A 0.700 CausalMutation CLINVAR
dbSNP: rs879255654
rs879255654
Entrez Id: 55280
Gene Symbol: CWF19L1
CWF19L1
CUI: C4015301
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 		T 0.700 CausalMutation CLINVAR
dbSNP: rs12784396
rs12784396
Entrez Id: 55280
Gene Symbol: CWF19L1
CWF19L1
CUI: C0015695
Disease:
Fatty Liver 		0.010 GeneticVariation BEFREE Nine variants (rs2862954, rs1408579, rs10883451, rs11597086, rs11591741, rs17729876, rs17668255, rs17668357, rs12784396) displayed genomewide significant associations at loci concomitantly influencing FL and ALT (2.47 × 10(-9) ≤ CMA-p ≤ 4.29 × 10(-10)) as compared with the suggestive significance of marginal tests (4.11 × 10(-5) ≤ GWA-p ≤ 2.34 × 10(-6)). 23477746 2013
dbSNP: rs12784396
rs12784396
Entrez Id: 55280
Gene Symbol: CWF19L1
CWF19L1
CUI: C2711227
Disease:
Steatohepatitis 		0.010 GeneticVariation BEFREE Nine variants (rs2862954, rs1408579, rs10883451, rs11597086, rs11591741, rs17729876, rs17668255, rs17668357, rs12784396) displayed genomewide significant associations at loci concomitantly influencing FL and ALT (2.47 × 10(-9) ≤ CMA-p ≤ 4.29 × 10(-10)) as compared with the suggestive significance of marginal tests (4.11 × 10(-5) ≤ GWA-p ≤ 2.34 × 10(-6)). 23477746 2013