rs1057516645

Orientation

minus

Stabilized

minus

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

Make rs1057516645(A;T)

Make rs1057516645(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

43058871

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs1057516645
dbSNP (classic)	rs1057516645
ClinGen	rs1057516645
ebi	rs1057516645
HLI	rs1057516645
Exac	rs1057516645
Gnomad	rs1057516645
Varsome	rs1057516645
LitVar	rs1057516645
Map	rs1057516645
PheGenI	rs1057516645
Biobank	rs1057516645
1000 genomes	rs1057516645
hgdp	rs1057516645
ensembl	rs1057516645
geneview	rs1057516645
scholar	rs1057516645
google	rs1057516645
pharmgkb	rs1057516645
gwascentral	rs1057516645
openSNP	rs1057516645
23andMe	rs1057516645
SNPshot	rs1057516645
SNPdbe	rs1057516645
MSV3d	rs1057516645
GWAS Ctlg	rs1057516645

Max Magnitude

0

ClinVar
Risk	rs1057516645(T;T)
Alt	rs1057516645(T;T)
Reference	Rs1057516645(A;A)
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.44478981T>A
CLNSRC
CLNACC	RCV000412412.1,