rs1057519469

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs1057519469(A;T)

Make rs1057519469(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

218812926

Gene

CYP27A1

is a	snp
is	mentioned by
dbSNP	rs1057519469
dbSNP (classic)	rs1057519469
ClinGen	rs1057519469
ebi	rs1057519469
HLI	rs1057519469
Exac	rs1057519469
Gnomad	rs1057519469
Varsome	rs1057519469
LitVar	rs1057519469
Map	rs1057519469
PheGenI	rs1057519469
Biobank	rs1057519469
1000 genomes	rs1057519469
hgdp	rs1057519469
ensembl	rs1057519469
geneview	rs1057519469
scholar	rs1057519469
google	rs1057519469
pharmgkb	rs1057519469
gwascentral	rs1057519469
openSNP	rs1057519469
23andMe	rs1057519469
SNPshot	rs1057519469
SNPdbe	rs1057519469
MSV3d	rs1057519469
GWAS Ctlg	rs1057519469

Max Magnitude

0

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,