Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057519469

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519469(A;T)
Make rs1057519469(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position218812926
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs1057519469
dbSNP (old)rs1057519469
ClinGenrs1057519469
ebirs1057519469
HLIrs1057519469
Exacrs1057519469
Gnomadrs1057519469
Varsomers1057519469
Maprs1057519469
PheGenIrs1057519469
Biobankrs1057519469
1000 genomesrs1057519469
hgdprs1057519469
ensemblrs1057519469
gopubmedrs1057519469
geneviewrs1057519469
scholarrs1057519469
googlers1057519469
pharmgkbrs1057519469
gwascentralrs1057519469
openSNPrs1057519469
23andMers1057519469
23andMe allrs1057519469
SNPshotrs1057519469
SNPdbers1057519469
MSV3drs1057519469
GWAS Ctlgrs1057519469
Max Magnitude0
ClinVar
Risk rs1057519469(T;T)
Alt rs1057519469(T;T)
Reference Rs1057519469(A;A)
Significance Probable-Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219677649A>T
CLNSRC
CLNACC RCV000416454.1,