rs1057516256

Orientation

minus

Stabilized

minus

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

Make rs1057516256(A;A)

Make rs1057516256(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

43068508

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs1057516256
dbSNP (classic)	rs1057516256
ClinGen	rs1057516256
ebi	rs1057516256
HLI	rs1057516256
Exac	rs1057516256
Gnomad	rs1057516256
Varsome	rs1057516256
LitVar	rs1057516256
Map	rs1057516256
PheGenI	rs1057516256
Biobank	rs1057516256
1000 genomes	rs1057516256
hgdp	rs1057516256
ensembl	rs1057516256
geneview	rs1057516256
scholar	rs1057516256
google	rs1057516256
pharmgkb	rs1057516256
gwascentral	rs1057516256
openSNP	rs1057516256
23andMe	rs1057516256
SNPshot	rs1057516256
SNPdbe	rs1057516256
MSV3d	rs1057516256
GWAS Ctlg	rs1057516256

Max Magnitude

0

ClinVar
Risk	rs1057516256(A;A)
Alt	rs1057516256(A;A)
Reference	Rs1057516256(G;G)
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.44488618C>T
CLNSRC
CLNACC	RCV000411421.1,