rs863223432

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	3	Carrier of a homocystinuria mutation
(G;G)	0	common in clinvar

Make rs863223432(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

21

Position

43062381

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs863223432
dbSNP (classic)	rs863223432
ClinGen	rs863223432
ebi	rs863223432
HLI	rs863223432
Exac	rs863223432
Gnomad	rs863223432
Varsome	rs863223432
LitVar	rs863223432
Map	rs863223432
PheGenI	rs863223432
Biobank	rs863223432
1000 genomes	rs863223432
hgdp	rs863223432
ensembl	rs863223432
geneview	rs863223432
scholar	rs863223432
google	rs863223432
pharmgkb	rs863223432
gwascentral	rs863223432
openSNP	rs863223432
23andMe	rs863223432
SNPshot	rs863223432
SNPdbe	rs863223432
MSV3d	rs863223432
GWAS Ctlg	rs863223432

Max Magnitude

3

ClinVar
Risk	rs863223432(A;A)
Alt	rs863223432(A;A)
Reference	Rs863223432(G;G)
Significance	Pathogenic
Disease	not provided Homocystinuria due to CBS deficiency
Variation	info
Gene	CBSL CBS
CLNDBN	not provided Homocystinuria due to CBS deficiency
Reversed	1
HGVS	NC_000021.8:g.44482491C>T
CLNSRC
CLNACC	RCV000197013.1, RCV000363392.1,