rs1057517083

Orientation

minus

Stabilized

minus

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

Make rs1057517083(-;-)

Make rs1057517083(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

43066292

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs1057517083
dbSNP (classic)	rs1057517083
ClinGen	rs1057517083
ebi	rs1057517083
HLI	rs1057517083
Exac	rs1057517083
Gnomad	rs1057517083
Varsome	rs1057517083
LitVar	rs1057517083
Map	rs1057517083
PheGenI	rs1057517083
Biobank	rs1057517083
1000 genomes	rs1057517083
hgdp	rs1057517083
ensembl	rs1057517083
geneview	rs1057517083
scholar	rs1057517083
google	rs1057517083
pharmgkb	rs1057517083
gwascentral	rs1057517083
openSNP	rs1057517083
23andMe	rs1057517083
SNPshot	rs1057517083
SNPdbe	rs1057517083
MSV3d	rs1057517083
GWAS Ctlg	rs1057517083

Max Magnitude

0

ClinVar
Risk	rs1057517083(-;-)
Alt	rs1057517083(-;-)
Reference	Rs1057517083(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.44486402delC
CLNSRC
CLNACC	RCV000411736.1,