rs149119723

Orientation

plus

Stabilized

plus

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

Make rs149119723(A;A)

Make rs149119723(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

21

Position

43063943

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs149119723
dbSNP (classic)	rs149119723
ClinGen	rs149119723
ebi	rs149119723
HLI	rs149119723
Exac	rs149119723
Gnomad	rs149119723
Varsome	rs149119723
LitVar	rs149119723
Map	rs149119723
PheGenI	rs149119723
Biobank	rs149119723
1000 genomes	rs149119723
hgdp	rs149119723
ensembl	rs149119723
geneview	rs149119723
scholar	rs149119723
google	rs149119723
pharmgkb	rs149119723
gwascentral	rs149119723
openSNP	rs149119723
23andMe	rs149119723
SNPshot	rs149119723
SNPdbe	rs149119723
MSV3d	rs149119723
GWAS Ctlg	rs149119723

Max Magnitude

0

ClinVar
Risk	rs149119723(A;A)
Alt	rs149119723(A;A)
Reference	Rs149119723(G;G)
Significance	Other
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.44484053G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000180461.1, RCV000200469.2,