rs1057516895

Orientation

minus

Stabilized

minus

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

Make rs1057516895(A;A)

Make rs1057516895(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

43056888

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs1057516895
dbSNP (classic)	rs1057516895
ClinGen	rs1057516895
ebi	rs1057516895
HLI	rs1057516895
Exac	rs1057516895
Gnomad	rs1057516895
Varsome	rs1057516895
LitVar	rs1057516895
Map	rs1057516895
PheGenI	rs1057516895
Biobank	rs1057516895
1000 genomes	rs1057516895
hgdp	rs1057516895
ensembl	rs1057516895
geneview	rs1057516895
scholar	rs1057516895
google	rs1057516895
pharmgkb	rs1057516895
gwascentral	rs1057516895
openSNP	rs1057516895
23andMe	rs1057516895
SNPshot	rs1057516895
SNPdbe	rs1057516895
MSV3d	rs1057516895
GWAS Ctlg	rs1057516895

Max Magnitude

0

ClinVar
Risk	rs1057516895(A;A)
Alt	rs1057516895(A;A)
Reference	Rs1057516895(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.44476998C>T
CLNSRC
CLNACC	RCV000409904.1,