rs1057516552

Orientation

minus

Stabilized

minus

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

Make rs1057516552(-;-)

Make rs1057516552(-;CCAGGCAGAAGTGGGGCCC)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

43072158

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs1057516552
dbSNP (classic)	rs1057516552
ClinGen	rs1057516552
ebi	rs1057516552
HLI	rs1057516552
Exac	rs1057516552
Gnomad	rs1057516552
Varsome	rs1057516552
LitVar	rs1057516552
Map	rs1057516552
PheGenI	rs1057516552
Biobank	rs1057516552
1000 genomes	rs1057516552
hgdp	rs1057516552
ensembl	rs1057516552
geneview	rs1057516552
scholar	rs1057516552
google	rs1057516552
pharmgkb	rs1057516552
gwascentral	rs1057516552
openSNP	rs1057516552
23andMe	rs1057516552
SNPshot	rs1057516552
SNPdbe	rs1057516552
MSV3d	rs1057516552
GWAS Ctlg	rs1057516552

Max Magnitude

0

ClinVar
Risk	rs1057516552(-;-)
Alt	rs1057516552(-;-)
Reference	Rs1057516552(CCAGGCAGAAGTGGGGCCC;CCAGGCAGAAGTGGGGCCC)
Significance	Probable-Pathogenic
Disease	Homocystinuria due to CBS deficiency
Variation	info
Gene	CBSL CBS
CLNDBN	Homocystinuria due to CBS deficiency
Reversed	1
HGVS	NC_000021.8:g.44492268_44492286del19
CLNSRC
CLNACC	RCV000409242.1,