rs1057517198

Orientation

minus

Stabilized

minus

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

Make rs1057517198(-;C)

Make rs1057517198(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

43072174

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs1057517198
dbSNP (classic)	rs1057517198
ClinGen	rs1057517198
ebi	rs1057517198
HLI	rs1057517198
Exac	rs1057517198
Gnomad	rs1057517198
Varsome	rs1057517198
LitVar	rs1057517198
Map	rs1057517198
PheGenI	rs1057517198
Biobank	rs1057517198
1000 genomes	rs1057517198
hgdp	rs1057517198
ensembl	rs1057517198
geneview	rs1057517198
scholar	rs1057517198
google	rs1057517198
pharmgkb	rs1057517198
gwascentral	rs1057517198
openSNP	rs1057517198
23andMe	rs1057517198
SNPshot	rs1057517198
SNPdbe	rs1057517198
MSV3d	rs1057517198
GWAS Ctlg	rs1057517198

Max Magnitude

0

ClinVar
Risk	rs1057517198(C;C)
Alt	rs1057517198(C;C)
Reference	Rs1057517198(-;-)
Significance	Pathogenic
Disease	Homocystinuria due to CBS deficiency not provided
Variation	info
Gene	CBSL CBS
CLNDBN	Homocystinuria due to CBS deficiency not provided
Reversed	1
HGVS	NC_000021.8:g.44492285dupG
CLNSRC
CLNACC	RCV000409151.1, RCV000478091.1,