rs1057517373

Orientation

minus

Stabilized

minus

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

Make rs1057517373(A;A)

Make rs1057517373(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

43062952

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs1057517373
dbSNP (classic)	rs1057517373
ClinGen	rs1057517373
ebi	rs1057517373
HLI	rs1057517373
Exac	rs1057517373
Gnomad	rs1057517373
Varsome	rs1057517373
LitVar	rs1057517373
Map	rs1057517373
PheGenI	rs1057517373
Biobank	rs1057517373
1000 genomes	rs1057517373
hgdp	rs1057517373
ensembl	rs1057517373
geneview	rs1057517373
scholar	rs1057517373
google	rs1057517373
pharmgkb	rs1057517373
gwascentral	rs1057517373
openSNP	rs1057517373
23andMe	rs1057517373
SNPshot	rs1057517373
SNPdbe	rs1057517373
MSV3d	rs1057517373
GWAS Ctlg	rs1057517373

Max Magnitude

0

ClinVar
Risk	rs1057517373(A;A)
Alt	rs1057517373(A;A)
Reference	Rs1057517373(G;G)
Significance	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.44483062C>T
CLNSRC
CLNACC	RCV000409556.1,