rs775351239

Orientation

plus

Stabilized

plus

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

Make rs775351239(-;-)

Make rs775351239(-;A)

Reference

GRCh38.p2 38.2/144

Chromosome

21

Position

43065250

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs775351239
dbSNP (classic)	rs775351239
ClinGen	rs775351239
ebi	rs775351239
HLI	rs775351239
Exac	rs775351239
Gnomad	rs775351239
Varsome	rs775351239
LitVar	rs775351239
Map	rs775351239
PheGenI	rs775351239
Biobank	rs775351239
1000 genomes	rs775351239
hgdp	rs775351239
ensembl	rs775351239
geneview	rs775351239
scholar	rs775351239
google	rs775351239
pharmgkb	rs775351239
gwascentral	rs775351239
openSNP	rs775351239
23andMe	rs775351239
SNPshot	rs775351239
SNPdbe	rs775351239
MSV3d	rs775351239
GWAS Ctlg	rs775351239

Max Magnitude

0

ClinVar
Risk	rs775351239(-;-)
Alt	rs775351239(-;-)
Reference	Rs775351239(A;A)
Significance	Pathogenic
Disease	Homocystinuria due to CBS deficiency not provided
Variation	info
Gene	CBSL CBS
CLNDBN	Homocystinuria due to CBS deficiency not provided
Reversed	0
HGVS	NC_000021.8:g.44485360delA
CLNSRC
CLNACC	RCV000169175.1, RCV000198642.1,