rs386833855

Orientation

plus

Stabilized

plus

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

Make rs386833855(A;A)

Make rs386833855(A;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

218660400

Gene	BCS1L, ZNF142

is a	snp
is	mentioned by
dbSNP	rs386833855
dbSNP (classic)	rs386833855
ClinGen	rs386833855
ebi	rs386833855
HLI	rs386833855
Exac	rs386833855
Gnomad	rs386833855
Varsome	rs386833855
LitVar	rs386833855
Map	rs386833855
PheGenI	rs386833855
Biobank	rs386833855
1000 genomes	rs386833855
hgdp	rs386833855
ensembl	rs386833855
geneview	rs386833855
scholar	rs386833855
google	rs386833855
pharmgkb	rs386833855
gwascentral	rs386833855
openSNP	rs386833855
23andMe	rs386833855
SNPshot	rs386833855
SNPdbe	rs386833855
MSV3d	rs386833855
GWAS Ctlg	rs386833855

Max Magnitude

0

ClinVar
Risk	rs386833855(A;A)
Alt	rs386833855(A;A)
Reference	Rs386833855(T;T)
Significance	Probable-Pathogenic
Disease	GRACILE syndrome
Variation	info
Gene	ZNF142 BCS1L
CLNDBN	GRACILE syndrome
Reversed	0
HGVS	NC_000002.11:g.219525123T>A
CLNSRC	ClinVar
CLNACC	RCV000049824.1,

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