rs1057517435

Orientation

minus

Stabilized

minus

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

Make rs1057517435(CC;GGTG)

Make rs1057517435(GGTG;GGTG)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

43065231

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs1057517435
dbSNP (classic)	rs1057517435
ClinGen	rs1057517435
ebi	rs1057517435
HLI	rs1057517435
Exac	rs1057517435
Gnomad	rs1057517435
Varsome	rs1057517435
LitVar	rs1057517435
Map	rs1057517435
PheGenI	rs1057517435
Biobank	rs1057517435
1000 genomes	rs1057517435
hgdp	rs1057517435
ensembl	rs1057517435
geneview	rs1057517435
scholar	rs1057517435
google	rs1057517435
pharmgkb	rs1057517435
gwascentral	rs1057517435
openSNP	rs1057517435
23andMe	rs1057517435
SNPshot	rs1057517435
SNPdbe	rs1057517435
MSV3d	rs1057517435
GWAS Ctlg	rs1057517435

Max Magnitude

0

ClinVar
Risk	rs1057517435(GGTG;GGTG)
Alt	rs1057517435(GGTG;GGTG)
Reference	Rs1057517435(CC;CC)
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.44485341_44485342delGGinsCACC
CLNSRC
CLNACC	RCV000409103.1,