rs386833858

Orientation

plus

Stabilized

plus

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

Make rs386833858(C;C)

Make rs386833858(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

218662973

Gene

BCS1L

is a	snp
is	mentioned by
dbSNP	rs386833858
dbSNP (classic)	rs386833858
ClinGen	rs386833858
ebi	rs386833858
HLI	rs386833858
Exac	rs386833858
Gnomad	rs386833858
Varsome	rs386833858
LitVar	rs386833858
Map	rs386833858
PheGenI	rs386833858
Biobank	rs386833858
1000 genomes	rs386833858
hgdp	rs386833858
ensembl	rs386833858
geneview	rs386833858
scholar	rs386833858
google	rs386833858
pharmgkb	rs386833858
gwascentral	rs386833858
openSNP	rs386833858
23andMe	rs386833858
SNPshot	rs386833858
SNPdbe	rs386833858
MSV3d	rs386833858
GWAS Ctlg	rs386833858

Max Magnitude

0

ClinVar
Risk	rs386833858(C;C)
Alt	rs386833858(C;C)
Reference	Rs386833858(T;T)
Significance	Probable-Pathogenic
Disease	GRACILE syndrome
Variation	info
Gene	BCS1L
CLNDBN	GRACILE syndrome
Reversed	0
HGVS	NC_000002.11:g.219527696T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049827.1,

[PMID 12215968] GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.