rs770095972

Orientation

plus

Stabilized

plus

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

Make rs770095972(C;T)

Make rs770095972(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

21

Position

43066332

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs770095972
dbSNP (classic)	rs770095972
ClinGen	rs770095972
ebi	rs770095972
HLI	rs770095972
Exac	rs770095972
Gnomad	rs770095972
Varsome	rs770095972
LitVar	rs770095972
Map	rs770095972
PheGenI	rs770095972
Biobank	rs770095972
1000 genomes	rs770095972
hgdp	rs770095972
ensembl	rs770095972
geneview	rs770095972
scholar	rs770095972
google	rs770095972
pharmgkb	rs770095972
gwascentral	rs770095972
openSNP	rs770095972
23andMe	rs770095972
SNPshot	rs770095972
SNPdbe	rs770095972
MSV3d	rs770095972
GWAS Ctlg	rs770095972

Max Magnitude

0

ClinVar
Risk	rs770095972(A;A) rs770095972(T;T)
Alt	rs770095972(A;A) rs770095972(T;T)
Reference	Rs770095972(C;C)
Significance	Probable-Pathogenic
Disease	Homocystinuria due to CBS deficiency
Variation	info
Gene	CBSL CBS
CLNDBN	Homocystinuria due to CBS deficiency
Reversed	0
HGVS	NC_000021.8:g.44486442C>A; NC_000021.8:g.44486442C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000190373.1, RCV000169322.1,